All Snps(Total Genotypes:193) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs1042522 | 24586820 | 7157 | TP53 | umls:C0019693 | BeFree | To investigate the associations of TP53 R72P and MDM2 T309G SNPs with HPV infection status, HPV oncogenic risk and HIV infection status. | 0.009967404 | 2014 | TP53 | 17 | 7676154 | G | T,C |
| rs1045642 | 22297601 | 5243 | ABCB1 | umls:C0019693 | BeFree | Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected South African patients. | 0.083149899 | 2012 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 18391751 | 5243 | ABCB1 | umls:C0019693 | BeFree | We studied the influence of AIDS restriction genes (ARGs) CCR5-Delta32, CCR2-64I, SDF1-3'A, IL10-5'A, CX3CR1-V249I, CX3CR1-T280M, and MDR1-C3435T and haplotypes of the CCR5 P1 promoter and RANTES variants -403A, In1.1C, 3'222C, and -28G among HIV-1 infected patients on highly active antiretroviral therapy (HAART) in the Multicenter AIDS Cohort Study (MACS) and the Multicenter Hemophilia Cohort Study (MHCS). | 0.083149899 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 22297601 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected South African patients. | 0.086135759 | 2012 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 21743379 | 5243 | ABCB1 | umls:C0019693 | BeFree | The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), and SLCO1B1 (T521C and A388AG) polymorphisms on the PK and virologic outcome of lopinavir/ritonavir (LPV/RTV) in HIV-infected children. | 0.083149899 | 2011 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 18391751 | 6352 | CCL5 | umls:C0019693 | BeFree | We studied the influence of AIDS restriction genes (ARGs) CCR5-Delta32, CCR2-64I, SDF1-3'A, IL10-5'A, CX3CR1-V249I, CX3CR1-T280M, and MDR1-C3435T and haplotypes of the CCR5 P1 promoter and RANTES variants -403A, In1.1C, 3'222C, and -28G among HIV-1 infected patients on highly active antiretroviral therapy (HAART) in the Multicenter AIDS Cohort Study (MACS) and the Multicenter Hemophilia Cohort Study (MHCS). | 0.064841065 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 23528223 | 8856 | NR1I2 | umls:C0019693 | BeFree | We investigated whether polymorphisms in MDR1 (T-129C, C1236T and C3435T) and PXR (C63396T) affect lopinavir plasma concentration and the virological or immunological response to HAART in HIV-1-infected children. | 0.003452799 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 23372834 | 5243 | ABCB1 | umls:C0019693 | BeFree | We show that genotyping for ABCB1 variations (rs1045642 and rs2032582) may help predict HIV treatment response. | 0.083149899 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 23082557 | 5243 | ABCB1 | umls:C0019693 | BeFree | Influence of ABCB-1 C3435T polymorphisms on plasma nevirapine and efavirenz levels and their effects on virologic and immunological outcomes in HIV/TB co-infected Thai adults under anti-retroviral therapy. | 0.083149899 | 2012 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 21743379 | 1577 | CYP3A5 | umls:C0019693 | BeFree | The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), and SLCO1B1 (T521C and A388AG) polymorphisms on the PK and virologic outcome of lopinavir/ritonavir (LPV/RTV) in HIV-infected children. | 0.025570413 | 2011 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 12853754 | 5243 | ABCB1 | umls:C0019693 | BeFree | MDR1 C3435T genetic polymorphism does not influence the response to antiretroviral therapy in drug-naive HIV-positive patients. | 0.083149899 | 2003 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1047552 | 19774691 | 83464 | APH1B | umls:C0019693 | BeFree | A functional single-nucleotide polymorphism (SNP) in the gamma-secretase component APH1B (Phe217Leu; rs1047552) was therefore analyzed for association with HIV-1 infection. | 0.002638474 | 2009 | APH1B | 15 | 63305658 | T | A,G |
| rs104893877 | 16756753 | 6622 | SNCA | umls:C0019693 | BeFree | In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment encoding the nine amino acid transactivator of transcription (Tat) protein transduction domain of HIV-1 in a bacterial expression vector to produce a genetic in-frame WT Tat-alpha-synuclein (wild type) and mutant Tat-alpha-synucleins (mutants; A30P and A53T), respectively, and we investigated the protective effects of wild type and mutant Tat-alpha-synucleins in vitro and in vivo. | 0.000542884 | 2006 | SNCA | 4 | 89828149 | C | T |
| rs104893877 | 16756753 | 6898 | TAT | umls:C0019693 | BeFree | In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment encoding the nine amino acid transactivator of transcription (Tat) protein transduction domain of HIV-1 in a bacterial expression vector to produce a genetic in-frame WT Tat-alpha-synuclein (wild type) and mutant Tat-alpha-synucleins (mutants; A30P and A53T), respectively, and we investigated the protective effects of wild type and mutant Tat-alpha-synucleins in vitro and in vivo. | 0.056731351 | 2006 | SNCA | 4 | 89828149 | C | T |
| rs104893877 | 16756753 | 79969 | ATAT1 | umls:C0019693 | BeFree | In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment encoding the nine amino acid transactivator of transcription (Tat) protein transduction domain of HIV-1 in a bacterial expression vector to produce a genetic in-frame WT Tat-alpha-synuclein (wild type) and mutant Tat-alpha-synucleins (mutants; A30P and A53T), respectively, and we investigated the protective effects of wild type and mutant Tat-alpha-synucleins in vitro and in vivo. | 0.056731351 | 2006 | SNCA | 4 | 89828149 | C | T |
| rs104893878 | 16756753 | 6622 | SNCA | umls:C0019693 | BeFree | In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment encoding the nine amino acid transactivator of transcription (Tat) protein transduction domain of HIV-1 in a bacterial expression vector to produce a genetic in-frame WT Tat-alpha-synuclein (wild type) and mutant Tat-alpha-synucleins (mutants; A30P and A53T), respectively, and we investigated the protective effects of wild type and mutant Tat-alpha-synucleins in vitro and in vivo. | 0.000542884 | 2006 | SNCA;SNCA-AS1 | 4 | 89835580 | C | G |
| rs104893878 | 16756753 | 6898 | TAT | umls:C0019693 | BeFree | In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment encoding the nine amino acid transactivator of transcription (Tat) protein transduction domain of HIV-1 in a bacterial expression vector to produce a genetic in-frame WT Tat-alpha-synuclein (wild type) and mutant Tat-alpha-synucleins (mutants; A30P and A53T), respectively, and we investigated the protective effects of wild type and mutant Tat-alpha-synucleins in vitro and in vivo. | 0.056731351 | 2006 | SNCA;SNCA-AS1 | 4 | 89835580 | C | G |
| rs104893878 | 16756753 | 79969 | ATAT1 | umls:C0019693 | BeFree | In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment encoding the nine amino acid transactivator of transcription (Tat) protein transduction domain of HIV-1 in a bacterial expression vector to produce a genetic in-frame WT Tat-alpha-synuclein (wild type) and mutant Tat-alpha-synucleins (mutants; A30P and A53T), respectively, and we investigated the protective effects of wild type and mutant Tat-alpha-synucleins in vitro and in vivo. | 0.056731351 | 2006 | SNCA;SNCA-AS1 | 4 | 89835580 | C | G |
| rs1050501 | 22879986 | 2213 | FCGR2B | umls:C0019693 | BeFree | We found for the first time associations between cryptococcal meningitis and FCGR2B 232I/T genotypes, which suggested that FcγRIIB might play an important role in the central nervous system infection by Cryptococcus in HIV-uninfected individuals. | 0.000542884 | 2012 | FCGR2B | 1 | 161674008 | T | C |
| rs10754558 | 22227487 | 3553 | IL1B | umls:C0019693 | BeFree | The 2 polymorphisms rs10754558 in NLRP3 and rs1143634 in IL1B were significantly associated to the HIV-1 infection. | 0.019782919 | 2012 | NLRP3 | 1 | 247448734 | G | C |
| rs11212617 | 23171036 | 472 | ATM | umls:C0019693 | BeFree | We provide novel data suggesting that identification of the ATM rs11212617 variant may be important in assessing the glycaemic response to metformin treatment for insulin resistance in HIV-infected patients. | 0.001357209 | 2013 | C11orf65 | 11 | 108412434 | C | A |
| rs1127354 | 22430973 | 2056 | EPO | umls:C0019693 | BeFree | Polymorphisms at rs1127354 in the ITPA gene influence hemoglobin levels during combination HCV therapy and the need for RBV dose reduction and erythropoietin use in HIV/HCV-coinfected patients. | 0.001085767 | 2012 | ITPA | 20 | 3213196 | C | A,G,T |
| rs1128503 | 23528223 | 8856 | NR1I2 | umls:C0019693 | BeFree | We investigated whether polymorphisms in MDR1 (T-129C, C1236T and C3435T) and PXR (C63396T) affect lopinavir plasma concentration and the virological or immunological response to HAART in HIV-1-infected children. | 0.003452799 | 2013 | ABCB1 | 7 | 87550285 | A | G |
| rs1128503 | 23528223 | 5243 | ABCB1 | umls:C0019693 | BeFree | Influence of MDR1 C1236T polymorphism on lopinavir plasma concentration and virological response in HIV-1-infected children. | 0.083149899 | 2013 | ABCB1 | 7 | 87550285 | A | G |
| rs113488022 | 15208655 | 2048 | EPHB2 | umls:C0019693 | BeFree | We attempted to mediate RNA interference (RNAi) with HIV lentiviral vectors specific for either wild type or the most frequently mutated form of BRAF (V599E) in 10 melanoma cell lines, and found that RNAi inhibited the growth of most melanoma cell lines in vitro as well as in vivo, which was accompanied by decrease of both BRAF protein and ERK phosphorylation. | 0.001900093 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15208655 | 5594 | MAPK1 | umls:C0019693 | BeFree | We attempted to mediate RNA interference (RNAi) with HIV lentiviral vectors specific for either wild type or the most frequently mutated form of BRAF (V599E) in 10 melanoma cell lines, and found that RNAi inhibited the growth of most melanoma cell lines in vitro as well as in vivo, which was accompanied by decrease of both BRAF protein and ERK phosphorylation. | 0.007795869 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15208655 | 673 | BRAF | umls:C0019693 | BeFree | We attempted to mediate RNA interference (RNAi) with HIV lentiviral vectors specific for either wild type or the most frequently mutated form of BRAF (V599E) in 10 melanoma cell lines, and found that RNAi inhibited the growth of most melanoma cell lines in vitro as well as in vivo, which was accompanied by decrease of both BRAF protein and ERK phosphorylation. | 0.000271442 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1143634 | 22227487 | 3553 | IL1B | umls:C0019693 | BeFree | The 2 polymorphisms rs10754558 in NLRP3 and rs1143634 in IL1B were significantly associated to the HIV-1 infection. | 0.019782919 | 2012 | IL1B | 2 | 112832813 | G | A |
| rs11540654 | 24586820 | 7157 | TP53 | umls:C0019693 | BeFree | To investigate the associations of TP53 R72P and MDM2 T309G SNPs with HPV infection status, HPV oncogenic risk and HIV infection status. | 0.009967404 | 2014 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11568350 | 22249207 | 57817 | HAMP | umls:C0019693 | BeFree | Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women. | 0.000542884 | 2012 | SLC40A1 | 2 | 189565370 | C | A |
| rs11881222 | 23103287 | 282617 | IFNL3 | umls:C0019693 | BeFree | The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs7248668 G) are associated with increased odds of liver disease severity in HIV patients infected with HCV-genotype 3. | 0.032584294 | 2013 | IFNL3 | 19 | 39244283 | A | G |
| rs12252 | 25784441 | 10410 | IFITM3 | umls:C0019693 | BeFree | Interferon-induced transmembrane protein-3 rs12252-C is associated with rapid progression of acute HIV-1 infection in Chinese MSM cohort. | 0.000271442 | 2016 | IFITM3 | 11 | 320772 | A | G |
| rs12979860 | 23939236 | 282617 | IFNL3 | umls:C0019693 | BeFree | Analysing 206 HCV(+)/HIV(+) and 162 HCV(+)/HIV(-) patients, we found that compared with IL28B rs12979860, IFNL4 ss469415590 was strongly associated with response to interferon/ribavirin therapy in HCV(+)/HIV(-) individuals but not in HIV(+)/HCV(+) patients. | 0.032584294 | 2014 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs12979860 | 21157362 | 3440 | IFNA2 | umls:C0019693 | BeFree | We examined the association between IL28B single-nucleotide polymorphism rs12979860, hepatitis C virus (HCV) kinetic, and pegylated interferon alpha-2a pharmacodynamic parameters in HIV/HCV-coinfected patients from South America. | 0.003257302 | 2011 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs12979860 | 23029188 | 282617 | IFNL3 | umls:C0019693 | BeFree | Polymorphisms of rs12979860 and rs8099917 near IL28B only associate with the treatment response to PegIFN/RBV in patients infected with HCV genotype 1 or 4 but not with genotype 2 or 3, irrespective of the previous treatment history or HIV co-infected status. | 0.032584294 | 2012 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs12979860 | 24072198 | 101180976 | IFNL4 | umls:C0019693 | BeFree | IFNL4 ss469415590 variant is a better predictor than rs12979860 of pegylated interferon-alpha/ribavirin therapy failure in hepatitis C virus/HIV-1 coinfected patients. | 0.001085767 | 2014 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs12979860 | 21813376 | 282617 | IFNL3 | umls:C0019693 | BeFree | Progression of liver fibrosis in HIV/HCV genotype 1 co-infected patients is related to the T allele of the rs12979860 polymorphism of the IL28B gene. | 0.032584294 | 2011 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs12979860 | 21813376 | 2091 | FBL | umls:C0019693 | BeFree | In a cross-sectional design, liver stiffness (transient elastography), surrogate markers of liver fibrosis (APRI and FIB-4 scores) and rs12979860 genotypes were analysed in 84 HCV/HIV co-infected patients. | 0.000542884 | 2011 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs12979860 | 23835502 | 282617 | IFNL3 | umls:C0019693 | BeFree | The impact of interleukin 28B rs12979860 single nucleotide polymorphism and liver fibrosis stage on response-guided therapy in HIV/HCV-coinfected patients. | 0.032584294 | 2014 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs12980275 | 23103287 | 282617 | IFNL3 | umls:C0019693 | BeFree | The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs7248668 G) are associated with increased odds of liver disease severity in HIV patients infected with HCV-genotype 3. | 0.032584294 | 2013 | NA | 19 | 39241143 | A | G |
| rs13266634 | 24499956 | 169026 | SLC30A8 | umls:C0019693 | BeFree | SLC30A8 rs13266634 polymorphism is related to a favorable cardiometabolic lipid profile in HIV/hepatitis C virus-coinfected patients. | 0.002638474 | 2015 | SLC30A8;LOC105375716 | 8 | 117172544 | C | T |
| rs14158 | 21572301 | 3447 | IFNA13 | umls:C0019693 | BeFree | Variations in rs14158 are associated with SVR to Peg-IFN and RBV in HIV/HCV-coinfected patients harboring HCV genotype 1-4. | 0.019543815 | 2011 | LDLR | 19 | 11131368 | G | A |
| rs146215995 | 19710594 | 85363 | TRIM5 | umls:C0019693 | BeFree | Impact of novel TRIM5alpha variants, Gly110Arg and G176del, on the anti-HIV-1 activity and the susceptibility to HIV-1 infection. | 0.140216182 | 2009 | TRIM5 | 11 | 5679850 | C | A,T |
| rs151341224 | 17108020 | 3106 | HLA-B | umls:C0019693 | BeFree | Polymorphism E169D in HIV-1 reverse transcriptase (RT) is significantly associated with HLA-B*0702 in HIV-1-infected individuals. | 0.255122563 | 2007 | HLA-B;MIR6891 | 6 | 31356408 | G | T,C,A |
| rs16910527 | 20577092 | 114609 | TIRAP | umls:C0019693 | BeFree | These data demonstrate that common polymorphisms of TLR2, TLR4, TIRAP, and CASPASE-12 do not influence susceptibility to OPC in HIV-infected patients in East Africa but suggest an immunomodulatory effect of the I223S SNP on dectin-1 function and possibly the susceptibility to OPC in HIV patients. | 0.004267125 | 2010 | CLEC7A;LOC105369655 | 12 | 10118534 | A | C |
| rs16910527 | 20577092 | 7097 | TLR2 | umls:C0019693 | BeFree | These data demonstrate that common polymorphisms of TLR2, TLR4, TIRAP, and CASPASE-12 do not influence susceptibility to OPC in HIV-infected patients in East Africa but suggest an immunomodulatory effect of the I223S SNP on dectin-1 function and possibly the susceptibility to OPC in HIV patients. | 0.016449672 | 2010 | CLEC7A;LOC105369655 | 12 | 10118534 | A | C |
| rs16910527 | 20577092 | 100506742 | CASP12 | umls:C0019693 | BeFree | These data demonstrate that common polymorphisms of TLR2, TLR4, TIRAP, and CASPASE-12 do not influence susceptibility to OPC in HIV-infected patients in East Africa but suggest an immunomodulatory effect of the I223S SNP on dectin-1 function and possibly the susceptibility to OPC in HIV patients. | 0.002638474 | 2010 | CLEC7A;LOC105369655 | 12 | 10118534 | A | C |
| rs16910527 | 20577092 | 64581 | CLEC7A | umls:C0019693 | BeFree | These data demonstrate that common polymorphisms of TLR2, TLR4, TIRAP, and CASPASE-12 do not influence susceptibility to OPC in HIV-infected patients in East Africa but suggest an immunomodulatory effect of the I223S SNP on dectin-1 function and possibly the susceptibility to OPC in HIV patients. | 0.002638474 | 2010 | CLEC7A;LOC105369655 | 12 | 10118534 | A | C |
| rs17235409 | 12019922 | 6556 | SLC11A1 | umls:C0019693 | BeFree | To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G/A, A318V, D543N and 3' untranslated region [UTR]), and the susceptibility of tuberculosis and HIV infection in Taiwanese. | 0.124267125 | 2002 | SLC11A1 | 2 | 218395009 | G | A,C |
| rs179008 | 24747071 | 54106 | TLR9 | umls:C0019693 | BeFree | Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635A/G) with a higher CD4T cell count during HIV infection. | 0.010901282 | 2014 | TLR7 | X | 12885540 | A | C,T |
| rs179008 | 24747071 | 51284 | TLR7 | umls:C0019693 | BeFree | Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635A/G) with a higher CD4T cell count during HIV infection. | 0.00989146 | 2014 | TLR7 | X | 12885540 | A | C,T |
| rs179012 | 24325963 | 7097 | TLR2 | umls:C0019693 | BeFree | TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition. | 0.016449672 | 2014 | TLR7 | X | 12883443 | G | A |
| rs179012 | 24325963 | 51284 | TLR7 | umls:C0019693 | BeFree | TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition. | 0.00989146 | 2014 | TLR7 | X | 12883443 | G | A |
| rs1799864 | 19942750 | 729230 | CCR2 | umls:C0019693 | BeFree | CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal cell derived factor-1alpha; (SDF-1alpha) 3'UTR G/A and DC-SIGN gene polymorphisms were studied by polymerase chain reaction based methods in HIV-1 infected patients without TB (n=151), with pulmonary TB (PTB) (n=81) and extrapulmonary TB (n=31), 155 PTB patients without HIV and 206 healthy controls. | 0.047904591 | 2009 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 16323127 | 6348 | CCL3 | umls:C0019693 | BeFree | Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotypes in the IL2 and CCR2/CCR5 regions were significantly associated with HIV-1 infection susceptibility in different genetic models. | 0.136882935 | 2006 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 16323127 | 3558 | IL2 | umls:C0019693 | BeFree | Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotypes in the IL2 and CCR2/CCR5 regions were significantly associated with HIV-1 infection susceptibility in different genetic models. | 0.158402788 | 2006 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 12879309 | 6352 | CCL5 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.064841065 | 2003 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 21461583 | 729230 | CCR2 | umls:C0019693 | BeFree | Association between the CCR2-Val64Ile polymorphism and susceptibility to HIV-1 infection: a meta-analysis. | 0.047904591 | 2011 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 11429106 | 6387 | CXCL12 | umls:C0019693 | BeFree | Frequencies obtained were 23.8% for SDF1-3'A and 9.5% for CCR2-V64I for both HIV+ cohort and general population. | 0.227425561 | 2001 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 11429106 | 729230 | CCR2 | umls:C0019693 | BeFree | Frequencies obtained were 23.8% for SDF1-3'A and 9.5% for CCR2-V64I for both HIV+ cohort and general population. | 0.047904591 | 2001 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 16323127 | 729230 | CCR2 | umls:C0019693 | BeFree | Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotypes in the IL2 and CCR2/CCR5 regions were significantly associated with HIV-1 infection susceptibility in different genetic models. | 0.047904591 | 2006 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 20537184 | 729230 | CCR2 | umls:C0019693 | BeFree | CCR2-V64I polymorphism has been previously reported to influence the progression to cervical cancer in some populations and has also been associated with decreased progression from HIV infection to AIDS. | 0.047904591 | 2010 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 19942750 | 6347 | CCL2 | umls:C0019693 | BeFree | CCR2 V64I (G/A), monocyte chemoattractant protein-1 (MCP-1) -2518 A/G, stromal cell derived factor-1alpha; (SDF-1alpha) 3'UTR G/A and DC-SIGN gene polymorphisms were studied by polymerase chain reaction based methods in HIV-1 infected patients without TB (n=151), with pulmonary TB (PTB) (n=81) and extrapulmonary TB (n=31), 155 PTB patients without HIV and 206 healthy controls. | 0.158805051 | 2009 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 12879309 | 1524 | CX3CR1 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.15984855 | 2003 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 16323127 | 1234 | CCR5 | umls:C0019693 | BeFree | Four SNPs (CCR2-V64I, CCR5-2459, MIP1A+954, and IL2+3896) and specific haplotypes in the IL2 and CCR2/CCR5 regions were significantly associated with HIV-1 infection susceptibility in different genetic models. | 0.184519152 | 2006 | CCR2 | 3 | 46357717 | G | A |
| rs1799864 | 12879309 | 729230 | CCR2 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.047904591 | 2003 | CCR2 | 3 | 46357717 | G | A |
| rs1799988 | 24463784 | 1234 | CCR5 | umls:C0019693 | BeFree | Furthermore, the TT genotype for CCR5 rs1799988 was associated with a mean 0.2 log10 copies per milliliter lower plasma HIV-1 RNA set point (P = 0.04). | 0.184519152 | 2014 | CCR5;LOC102724297 | 3 | 46370768 | C | T |
| rs1800206 | 21877956 | 5468 | PPARG | umls:C0019693 | BeFree | The frequency distribution of rare alleles for PPARα (L162V) and PPARγ (P12A and H449H) was compared using the chi square test in 363 HIV-1-infected patients classified according to the presence or absence of the metabolic syndrome after 48 months of follow-up on their first PI-containing regimen. | 0.006634157 | 2012 | PPARA | 22 | 46218377 | C | G |
| rs1800451 | 12847552 | 4153 | MBL2 | umls:C0019693 | BeFree | We found that (i) the prevalence of the common variant MBL alleles is correlated with the incidence of tuberculosis in sub-Saharan Africa (r=0.565), (ii) the mutant MBL G57E allele, in either the homozygous or compound heterozygous state, is associated with susceptibility to HIV-1 infection in the Gabonese population (P=0.019).Our data plus those in the literature suggest that individuals who are homozygous for the mutant MBL alleles display increased susceptibility to infections. | 0.171540413 | 2003 | MBL2 | 10 | 52771466 | C | T |
| rs1800629 | 19654554 | 4049 | LTA | umls:C0019693 | BeFree | Two single nucleotide polymorphisms (SNPs) in adjacent genes, lymphotoxin alpha (LTA +252G, rs909253 A>G) and tumor necrosis factor (TNF -308A, rs1800629 G>A), form the G-A haplotype repeatedly associated with increased risk of non-Hodgkin lymphoma (NHL) in individuals uninfected with HIV-1. | 0.000814326 | 2009 | TNF | 6 | 31575254 | G | A |
| rs1801132 | 22011627 | 2099 | ESR1 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000814326 | 2012 | ESR1 | 6 | 151944387 | G | C |
| rs1801132 | 22011627 | 2100 | ESR2 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000271442 | 2012 | ESR1 | 6 | 151944387 | G | C |
| rs1801282 | 19534662 | 5468 | PPARG | umls:C0019693 | BeFree | PPARgamma Pro12Ala polymorphism in HIV-1-infected patients with HAART-related lipodystrophy. | 0.006634157 | 2009 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 21877956 | 5468 | PPARG | umls:C0019693 | BeFree | The frequency distribution of rare alleles for PPARα (L162V) and PPARγ (P12A and H449H) was compared using the chi square test in 363 HIV-1-infected patients classified according to the presence or absence of the metabolic syndrome after 48 months of follow-up on their first PI-containing regimen. | 0.006634157 | 2012 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 25072612 | 5468 | PPARG | umls:C0019693 | BeFree | The presence of PPARγ2 rs1801282 G allele (Ala variant) was associated with increased odds for achieving SVR in HIV/HCV-coinfected patients on HCV treatment. | 0.006634157 | 2015 | PPARG | 3 | 12351626 | C | G |
| rs1805192 | 19534662 | 5468 | PPARG | umls:C0019693 | BeFree | PPARgamma Pro12Ala polymorphism in HIV-1-infected patients with HAART-related lipodystrophy. | 0.006634157 | 2009 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 21877956 | 5468 | PPARG | umls:C0019693 | BeFree | The frequency distribution of rare alleles for PPARα (L162V) and PPARγ (P12A and H449H) was compared using the chi square test in 363 HIV-1-infected patients classified according to the presence or absence of the metabolic syndrome after 48 months of follow-up on their first PI-containing regimen. | 0.006634157 | 2012 | PPARG | 3 | 12379739 | C | G |
| rs189601230 | 15851912 | 1234 | CCR5 | umls:C0019693 | BeFree | Biochemical and HIV-1 coreceptor properties of K26R, a new CCR5 Variant in China's Sichuan population. | 0.184519152 | 2005 | CCR5;LOC102724297 | 3 | 46372979 | A | G |
| rs199474503 | 24886641 | 6285 | S100B | umls:C0019693 | BeFree | An escape mutation from tyrosine to phenylalanine at the 135th amino acid (Y135F) of the HIV-1 nef gene is frequently observed in patients with HLA-A*24:02, an HLA Class I allele expressed in ~70% of Japanese persons. | 0.043159258 | 2014 | NA | NA | NA | NA | NA |
| rs199474503 | 24886641 | 3105 | HLA-A | umls:C0019693 | BeFree | The robust targeting of Nef126-10 following transmission (or in vivo selection) of HIV-1 containing Y135F may explain in part the previously reported stable plasma viral loads over time in the Japanese population, despite the high prevalence of both HLA-A*24:02 and Nef-Y135F in circulating HIV-1 sequences. | 0.096557954 | 2014 | NA | NA | NA | NA | NA |
| rs199474560 | 25972553 | 3107 | HLA-C | umls:C0019693 | BeFree | We investigated the effect of nonnucleoside reverse transcriptase (RT) inhibitor (NNRTI)-resistance mutations (Y181C, Y181I, and Y181V) on epitope recognition by CTLs specific for 3 different HIV-1 epitopes (HLA-A*02:01-restricted IV10, HLA-B*35:01-restricted NY9, and HLA-C*12:02-restricted KY9) in subtype B and subtype A/E infections and the accumulation of these mutations in treatment-naive Japanese and Vietnamese. | 0.196134679 | 2015 | NA | NA | NA | NA | NA |
| rs199474560 | 25972553 | 3105 | HLA-A | umls:C0019693 | BeFree | We investigated the effect of nonnucleoside reverse transcriptase (RT) inhibitor (NNRTI)-resistance mutations (Y181C, Y181I, and Y181V) on epitope recognition by CTLs specific for 3 different HIV-1 epitopes (HLA-A*02:01-restricted IV10, HLA-B*35:01-restricted NY9, and HLA-C*12:02-restricted KY9) in subtype B and subtype A/E infections and the accumulation of these mutations in treatment-naive Japanese and Vietnamese. | 0.096557954 | 2015 | NA | NA | NA | NA | NA |
| rs200215055 | 17710620 | 2214 | FCGR3A | umls:C0019693 | BeFree | A pilot candidate gene association study was conducted to investigate the role of three common functional genetic polymorphisms of the low-affinity Fc gamma receptors, FCGR2A (131H/R), FCGR3A (158F/V) and FCGR3B (NA1/NA2) in Cryptococcus neoformans infections in individuals not infected with HIV. | 0.008414698 | 2007 | FCGR3B | 1 | 161626196 | C | A,G |
| rs200215055 | 17710620 | 9913 | SUPT7L | umls:C0019693 | BeFree | A pilot candidate gene association study was conducted to investigate the role of three common functional genetic polymorphisms of the low-affinity Fc gamma receptors, FCGR2A (131H/R), FCGR3A (158F/V) and FCGR3B (NA1/NA2) in Cryptococcus neoformans infections in individuals not infected with HIV. | 0.001085767 | 2007 | FCGR3B | 1 | 161626196 | C | A,G |
| rs200215055 | 17710620 | 2215 | FCGR3B | umls:C0019693 | BeFree | A pilot candidate gene association study was conducted to investigate the role of three common functional genetic polymorphisms of the low-affinity Fc gamma receptors, FCGR2A (131H/R), FCGR3A (158F/V) and FCGR3B (NA1/NA2) in Cryptococcus neoformans infections in individuals not infected with HIV. | 0.005971721 | 2007 | FCGR3B | 1 | 161626196 | C | A,G |
| rs201565523 | 12019922 | 6556 | SLC11A1 | umls:C0019693 | BeFree | To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G/A, A318V, D543N and 3' untranslated region [UTR]), and the susceptibility of tuberculosis and HIV infection in Taiwanese. | 0.124267125 | 2002 | SLC11A1 | 2 | 218390027 | C | T |
| rs2032582 | 21743379 | 5243 | ABCB1 | umls:C0019693 | BeFree | The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), and SLCO1B1 (T521C and A388AG) polymorphisms on the PK and virologic outcome of lopinavir/ritonavir (LPV/RTV) in HIV-infected children. | 0.083149899 | 2011 | ABCB1 | 7 | 87531302 | A | T,C |
| rs2032582 | 21743379 | 1577 | CYP3A5 | umls:C0019693 | BeFree | The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), and SLCO1B1 (T521C and A388AG) polymorphisms on the PK and virologic outcome of lopinavir/ritonavir (LPV/RTV) in HIV-infected children. | 0.025570413 | 2011 | ABCB1 | 7 | 87531302 | A | T,C |
| rs2032582 | 23372834 | 5243 | ABCB1 | umls:C0019693 | BeFree | We show that genotyping for ABCB1 variations (rs1045642 and rs2032582) may help predict HIV treatment response. | 0.083149899 | 2013 | ABCB1 | 7 | 87531302 | A | T,C |
| rs2069763 | 21926633 | 3558 | IL2 | umls:C0019693 | BeFree | Known single-nucleotide polymorphism genes in the genes encoding interferon γ (874A>T, rs62559044) and interleukin 2 (-330T>G, rs2069763) were genotyped in 66 HIV+ patients, and the impact of single-nucleotide polymorphisms on expression of ABCB1, ABCC1, ABCC2, CXCR4, and CCR5 in peripheral blood mononuclear cells from HIV+ patients was assessed. | 0.158402788 | 2011 | IL2 | 4 | 122456327 | C | A |
| rs2234650 | 23769826 | 3554 | IL1R1 | umls:C0019693 | BeFree | IL1R1 (rs2234650) polymorphisms CT/CC along the specific haplotypes of the IL-1 gene family can be exploited as possible markers for prediction of perinatal HIV transmission. | 0.002638474 | 2013 | IL1R1 | 2 | 102141867 | C | T |
| rs2234693 | 22011627 | 2100 | ESR2 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000271442 | 2012 | ESR1 | 6 | 151842200 | T | C |
| rs2234693 | 22011627 | 2099 | ESR1 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000814326 | 2012 | ESR1 | 6 | 151842200 | T | C |
| rs2243250 | 12700447 | 1234 | CCR5 | umls:C0019693 | BeFree | In contrast to a previous study, we found that the -589T polymorphism was associated with a delayed acquisition of X4 HIV-1 variants (RH, 0.56; P = 0.02 for IL-4 -589 C/T or T/T) and a reduced number of CCR5 expressing memory CD4 T cells. | 0.184519152 | 2003 | IL4 | 5 | 132673462 | C | T |
| rs2277998 | 17530994 | 30835 | CD209 | umls:C0019693 | BeFree | To identify polymorphisms associated with HIV-exposed seronegative (ESN) individuals in Thais, genomic DNA from 102 HIV-seronegative individuals of HIV-seropositive spouses, 305 HIV-seropositive individuals, and 290 HIV-seronegative blood donors was genotyped for two single nucleotide polymorphisms (SNPs) in DC-SIGN promoter (-139A/G and 336A/G), a repeat number of 69 bp in Exon 4 of DC-SIGN and DC-SIGNR, and one SNP in Exon 5 of DC-SIGNR (rs2277998A/G). | 0.147470506 | 2007 | CLEC4M | 19 | 7766742 | G | A |
| rs2307424 | 24831655 | 6687 | SPG7 | umls:C0019693 | BeFree | In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (rs4803419), CAR c.540C>T (rs2307424), CAR c.152-1089T>C (rs3003596), and smoking status in a cohort of Serbian patients with HIV. | 0.000271442 | 2015 | NR1I3 | 1 | 161232815 | G | A |
| rs2395029 | 21860345 | 10866 | HCP5 | umls:C0019693 | BeFree | We compared the association between viral load set point and HCP5 rs2395029, -35HLA-C rs9264942, and the CCR5wt/Δ32 genotype in HIV-1-infected individuals in the Netherlands who had seroconverted between 1982 and 2002 (pre-2003 seroconverters, n = 459) or between 2003 and 2009 (post-2003 seroconverters, n = 231). | 0.009544073 | 2011 | HCP5 | 6 | 31464003 | T | G |
| rs2395029 | 21514285 | 10866 | HCP5 | umls:C0019693 | BeFree | The application of this methodology is a rapid and simple method to detect the HCP5 polymorphism (rs2395029) previous to administration of Abacavir in patients with HIV infection. | 0.009544073 | 2011 | HCP5 | 6 | 31464003 | T | G |
| rs2813544 | 22011627 | 2099 | ESR1 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000814326 | 2012 | NA | 6 | 152104447 | A | G |
| rs2813544 | 22011627 | 2100 | ESR2 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000271442 | 2012 | NA | 6 | 152104447 | A | G |
| rs3003596 | 24831655 | 6687 | SPG7 | umls:C0019693 | BeFree | In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (rs4803419), CAR c.540C>T (rs2307424), CAR c.152-1089T>C (rs3003596), and smoking status in a cohort of Serbian patients with HIV. | 0.000271442 | 2015 | NR1I3 | 1 | 161234427 | A | G |
| rs3020450 | 22011627 | 2099 | ESR1 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000814326 | 2012 | ESR2 | 14 | 64301584 | C | T,A |
| rs3020450 | 22011627 | 2100 | ESR2 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000271442 | 2012 | ESR2 | 14 | 64301584 | C | T,A |
| rs3094626 | 24784026 | 3133 | HLA-E | umls:C0019693 | BeFree | When conditioned on HLA and nongenetic factors previously associated with HIV-1 viral load (VL) in the study cohort, penalized approaches (HyperLasso models) identified an intergenic SNP (rs3094626 between RPP21 and HLA-E) and an intronic SNP (rs3134931 in NOTCH4) as novel correlates of early set-point VL in SCs. | 0.027806623 | 2014 | NA | 6 | 30355846 | T | C |
| rs3094626 | 24784026 | 79897 | RPP21 | umls:C0019693 | BeFree | When conditioned on HLA and nongenetic factors previously associated with HIV-1 viral load (VL) in the study cohort, penalized approaches (HyperLasso models) identified an intergenic SNP (rs3094626 between RPP21 and HLA-E) and an intronic SNP (rs3134931 in NOTCH4) as novel correlates of early set-point VL in SCs. | 0.000271442 | 2014 | NA | 6 | 30355846 | T | C |
| rs3094626 | 24784026 | 4855 | NOTCH4 | umls:C0019693 | BeFree | When conditioned on HLA and nongenetic factors previously associated with HIV-1 viral load (VL) in the study cohort, penalized approaches (HyperLasso models) identified an intergenic SNP (rs3094626 between RPP21 and HLA-E) and an intronic SNP (rs3134931 in NOTCH4) as novel correlates of early set-point VL in SCs. | 0.000271442 | 2014 | NA | 6 | 30355846 | T | C |
| rs3134931 | 24784026 | 3133 | HLA-E | umls:C0019693 | BeFree | When conditioned on HLA and nongenetic factors previously associated with HIV-1 viral load (VL) in the study cohort, penalized approaches (HyperLasso models) identified an intergenic SNP (rs3094626 between RPP21 and HLA-E) and an intronic SNP (rs3134931 in NOTCH4) as novel correlates of early set-point VL in SCs. | 0.027806623 | 2014 | NOTCH4 | 6 | 32222843 | T | C |
| rs3134931 | 24784026 | 4855 | NOTCH4 | umls:C0019693 | BeFree | When conditioned on HLA and nongenetic factors previously associated with HIV-1 viral load (VL) in the study cohort, penalized approaches (HyperLasso models) identified an intergenic SNP (rs3094626 between RPP21 and HLA-E) and an intronic SNP (rs3134931 in NOTCH4) as novel correlates of early set-point VL in SCs. | 0.000271442 | 2014 | NOTCH4 | 6 | 32222843 | T | C |
| rs3134931 | 24784026 | 79897 | RPP21 | umls:C0019693 | BeFree | When conditioned on HLA and nongenetic factors previously associated with HIV-1 viral load (VL) in the study cohort, penalized approaches (HyperLasso models) identified an intergenic SNP (rs3094626 between RPP21 and HLA-E) and an intronic SNP (rs3134931 in NOTCH4) as novel correlates of early set-point VL in SCs. | 0.000271442 | 2014 | NOTCH4 | 6 | 32222843 | T | C |
| rs3135506 | 25500319 | 116519 | APOA5 | umls:C0019693 | BeFree | In conclusion, polymorphisms in genes associated to the development of atherogenic dyslipidemia, especially variants in APOA5 gene (rs3135506 and rs662799), can influence the circulating CD4 T-cell levels in chronically HIV-infected patients. | 0.005276948 | 2014 | APOA5 | 11 | 116791691 | G | A,C |
| rs3213619 | 23528223 | 8856 | NR1I2 | umls:C0019693 | BeFree | We investigated whether polymorphisms in MDR1 (T-129C, C1236T and C3435T) and PXR (C63396T) affect lopinavir plasma concentration and the virological or immunological response to HAART in HIV-1-infected children. | 0.003452799 | 2013 | ABCB1 | 7 | 87600877 | A | G |
| rs352140 | 24037211 | 54106 | TLR9 | umls:C0019693 | BeFree | Infants with the TLR9 1635A (rs352140) variant were more likely to acquire HIV-1 by 1 month [hazard ratio = 1.81, 95% confidence interval (CI) = 1.05-3.14, P = 0.033] and by 12 months (hazard ratio = 1.62, CI = 1.01-2.60, P = 0.044) in dominant models adjusted for maternal plasma HIV-1 RNA level and genetic ancestry. | 0.010901282 | 2014 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 18769358 | 7097 | TLR2 | umls:C0019693 | BeFree | : To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (1892A/C and 2258G/A), TLR4 (896A/G and 1196C/T), and TLR9 (1635A/G) genes on CD4 count, HIV viral load, and clinical progression in a cohort of naive HIV-infected patients. | 0.016449672 | 2008 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 18769358 | 54106 | TLR9 | umls:C0019693 | BeFree | : TLR9 1635A/G SNP might have a role in HIV clinical disease progression. | 0.010901282 | 2008 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 24325963 | 54106 | TLR9 | umls:C0019693 | BeFree | TLR9 1635A/G was associated with reduced HIV-1 acquisition among HIV-seronegative controls with high but not low HIV-1 exposure (odds ratio [OR] = 0.7; P = .03 and OR = 0.9, P = .5, respectively). | 0.010901282 | 2014 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 24747071 | 51284 | TLR7 | umls:C0019693 | BeFree | Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635A/G) with a higher CD4T cell count during HIV infection. | 0.00989146 | 2014 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 24747071 | 54106 | TLR9 | umls:C0019693 | BeFree | Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635A/G) with a higher CD4T cell count during HIV infection. | 0.010901282 | 2014 | TLR9 | 3 | 52222681 | C | A,T |
| rs35599367 | 24950369 | 1576 | CYP3A4 | umls:C0019693 | BeFree | CYP3A4*22 (c.522-191 C>T; rs35599367) is associated with lopinavir pharmacokinetics in HIV-positive adults. | 0.029023212 | 2015 | CYP3A4 | 7 | 99768693 | G | A |
| rs3732378 | 17884099 | 1524 | CX3CR1 | umls:C0019693 | BeFree | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapid progression to AIDS among HIV-1 positive individuals also affects the risk of human T cell lymphotropic virus type 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP), we compared the allele frequencies of V249I and T280M between 233 HAM/TSP patients and 213 HTLV-1 seropositive asymptomatic carriers (HCs). | 0.15984855 | 2008 | CX3CR1 | 3 | 39265671 | G | A |
| rs3732378 | 17884099 | 7057 | THBS1 | umls:C0019693 | BeFree | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapid progression to AIDS among HIV-1 positive individuals also affects the risk of human T cell lymphotropic virus type 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP), we compared the allele frequencies of V249I and T280M between 233 HAM/TSP patients and 213 HTLV-1 seropositive asymptomatic carriers (HCs). | 0.001357209 | 2008 | CX3CR1 | 3 | 39265671 | G | A |
| rs3732378 | 12879309 | 729230 | CCR2 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.047904591 | 2003 | CX3CR1 | 3 | 39265671 | G | A |
| rs3732378 | 17884099 | 55729 | ATF7IP | umls:C0019693 | BeFree | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapid progression to AIDS among HIV-1 positive individuals also affects the risk of human T cell lymphotropic virus type 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP), we compared the allele frequencies of V249I and T280M between 233 HAM/TSP patients and 213 HTLV-1 seropositive asymptomatic carriers (HCs). | 0.000814326 | 2008 | CX3CR1 | 3 | 39265671 | G | A |
| rs3732378 | 12879309 | 1524 | CX3CR1 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.15984855 | 2003 | CX3CR1 | 3 | 39265671 | G | A |
| rs3732378 | 12879309 | 6352 | CCL5 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.064841065 | 2003 | CX3CR1 | 3 | 39265671 | G | A |
| rs3732379 | 12879309 | 6352 | CCL5 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.064841065 | 2003 | CX3CR1 | 3 | 39265765 | C | T |
| rs3732379 | 17884099 | 7057 | THBS1 | umls:C0019693 | BeFree | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapid progression to AIDS among HIV-1 positive individuals also affects the risk of human T cell lymphotropic virus type 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP), we compared the allele frequencies of V249I and T280M between 233 HAM/TSP patients and 213 HTLV-1 seropositive asymptomatic carriers (HCs). | 0.001357209 | 2008 | CX3CR1 | 3 | 39265765 | C | T |
| rs3732379 | 17884099 | 55729 | ATF7IP | umls:C0019693 | BeFree | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapid progression to AIDS among HIV-1 positive individuals also affects the risk of human T cell lymphotropic virus type 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP), we compared the allele frequencies of V249I and T280M between 233 HAM/TSP patients and 213 HTLV-1 seropositive asymptomatic carriers (HCs). | 0.000814326 | 2008 | CX3CR1 | 3 | 39265765 | C | T |
| rs3732379 | 12879309 | 729230 | CCR2 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.047904591 | 2003 | CX3CR1 | 3 | 39265765 | C | T |
| rs3732379 | 12879309 | 1524 | CX3CR1 | umls:C0019693 | BeFree | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhesus macaque, baboon and marmoset) the RANTES, CCR2 and CX3CR1 gene sequences in regions surrounding human mutations that were associated with susceptibility to HIV or AIDS progression: RANTES G-403A and C-28G, CCR2 V64I, CX3CR1 V249I and CX3CR1 T280M. | 0.15984855 | 2003 | CX3CR1 | 3 | 39265765 | C | T |
| rs3732379 | 17884099 | 1524 | CX3CR1 | umls:C0019693 | BeFree | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapid progression to AIDS among HIV-1 positive individuals also affects the risk of human T cell lymphotropic virus type 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP), we compared the allele frequencies of V249I and T280M between 233 HAM/TSP patients and 213 HTLV-1 seropositive asymptomatic carriers (HCs). | 0.15984855 | 2008 | CX3CR1 | 3 | 39265765 | C | T |
| rs3740996 | 17406861 | 85363 | TRIM5 | umls:C0019693 | BeFree | Our epidemiological and molecular biological findings clearly indicate H43Y has a very minor effect on anti-HIV-1 activity of TRIM5alpha, suggesting that this allele is immaterial, at least in HIV-1-infected Europeans and Asians. | 0.140216182 | 2007 | TRIM5 | 11 | 5680051 | G | A |
| rs3745274 | 24831655 | 6687 | SPG7 | umls:C0019693 | BeFree | In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (rs4803419), CAR c.540C>T (rs2307424), CAR c.152-1089T>C (rs3003596), and smoking status in a cohort of Serbian patients with HIV. | 0.000271442 | 2015 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3745274 | 19486190 | 1555 | CYP2B6 | umls:C0019693 | BeFree | CYP2B6 G516T genotyping in a UK cohort of HIV-positive patients: polymorphism frequency and influence on efavirenz discontinuation. | 0.086135759 | 2009 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3745274 | 23970651 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Seventy-two adult Chinese HIV-positive treatment-naïve patients were recruited in a study to evaluate prospectively the associations between CYP2B6 516 G/T polymorphisms and sleep quality following treatment with an efavirenz-based regimen. | 0.086135759 | 2014 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3745274 | 22297601 | 5243 | ABCB1 | umls:C0019693 | BeFree | Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected South African patients. | 0.083149899 | 2012 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3745274 | 24831655 | 1555 | CYP2B6 | umls:C0019693 | BeFree | CYP2B6 516G>T (rs3745274) and smoking status are associated with efavirenz plasma concentration in a Serbian cohort of HIV patients. | 0.086135759 | 2015 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3745274 | 17356468 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Efavirenz pharmacokinetics in HIV-1-infected children are associated with CYP2B6-G516T polymorphism. | 0.086135759 | 2007 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3745274 | 22297601 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected South African patients. | 0.086135759 | 2012 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3745274 | 24551111 | 1555 | CYP2B6 | umls:C0019693 | BeFree | HIV-infected patients with or without TB who had received combination antiretroviral therapy containing efavirenz (600 mg daily) for two weeks or greater were enrolled for determinations of CYP2B6 G516T polymorphism and plasma efavirenz concentrations with the use of polymerase-chain-reaction restriction fragment-length polymorphism and high-performance liquid chromatography, respectively. | 0.086135759 | 2014 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3745274 | 17352764 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Cytochrome P450 2B6 (CYP2B6) G516T influences nevirapine plasma concentrations in HIV-infected patients in Uganda. | 0.086135759 | 2007 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3775291 | 23962581 | 7098 | TLR3 | umls:C0019693 | BeFree | Association between TLR3 rs3775291 and resistance to HIV among highly exposed Caucasian intravenous drug users. | 0.005081451 | 2013 | TLR3 | 4 | 186082920 | C | T,G |
| rs3804099 | 24325963 | 7097 | TLR2 | umls:C0019693 | BeFree | TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition. | 0.016449672 | 2014 | TLR2 | 4 | 153703504 | T | C |
| rs3804099 | 24325963 | 51284 | TLR7 | umls:C0019693 | BeFree | TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition. | 0.00989146 | 2014 | TLR2 | 4 | 153703504 | T | C |
| rs4149056 | 21743379 | 1577 | CYP3A5 | umls:C0019693 | BeFree | The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), and SLCO1B1 (T521C and A388AG) polymorphisms on the PK and virologic outcome of lopinavir/ritonavir (LPV/RTV) in HIV-infected children. | 0.025570413 | 2011 | SLCO1B1 | 12 | 21178615 | T | C |
| rs4149056 | 21743379 | 5243 | ABCB1 | umls:C0019693 | BeFree | The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), and SLCO1B1 (T521C and A388AG) polymorphisms on the PK and virologic outcome of lopinavir/ritonavir (LPV/RTV) in HIV-infected children. | 0.083149899 | 2011 | SLCO1B1 | 12 | 21178615 | T | C |
| rs41557212 | 19279440 | 6285 | S100B | umls:C0019693 | BeFree | PBMCs from HLA-A*2402(A24)-positive patients were stimulated with peptides representing a wild-type CTL epitope in the HIV-1 Nef protein [Nef138-10(wt)] or an escape mutant with a Y to F (Y139F) substitution at the second position [Nef138-10(2F)]. | 0.043159258 | 2009 | NA | NA | NA | NA | NA |
| rs41557212 | 19279440 | 3105 | HLA-A | umls:C0019693 | BeFree | PBMCs from HLA-A*2402(A24)-positive patients were stimulated with peptides representing a wild-type CTL epitope in the HIV-1 Nef protein [Nef138-10(wt)] or an escape mutant with a Y to F (Y139F) substitution at the second position [Nef138-10(2F)]. | 0.096557954 | 2009 | NA | NA | NA | NA | NA |
| rs4242392 | 20802294 | 8797 | TNFRSF10A | umls:C0019693 | BeFree | We found that the presence of the rs4242392 SNP in tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), which encodes for tumor necrosis factor-related apoptosis-inducing ligand receptor 1, predicts poor outcome to HCV therapy, in HIV/HCV-co-infected patients [odds ratio 5.91 (95% confidence interval 1.63-21.38, P = 0.007)]. | 0.002909916 | 2010 | TNFRSF10A | 8 | 23204120 | T | C |
| rs4803419 | 24831655 | 6687 | SPG7 | umls:C0019693 | BeFree | In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (rs4803419), CAR c.540C>T (rs2307424), CAR c.152-1089T>C (rs3003596), and smoking status in a cohort of Serbian patients with HIV. | 0.000271442 | 2015 | CYP2B6 | 19 | 41006887 | C | T |
| rs4986790 | 17545720 | 7099 | TLR4 | umls:C0019693 | BeFree | The toll-like receptor 4 Asp299Gly variant and tuberculosis susceptibility in HIV-infected patients in Tanzania. | 0.021183736 | 2007 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 20226000 | 7099 | TLR4 | umls:C0019693 | BeFree | We describe an independent association between TLR4 Asp299Gly SNP and active TB in Caucasian Mediterranean HIV-infected patients. | 0.021183736 | 2010 | TLR4 | 9 | 117713024 | A | G |
| rs4986938 | 22011627 | 2100 | ESR2 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000271442 | 2012 | ESR2 | 14 | 64233098 | C | T |
| rs4986938 | 22011627 | 2099 | ESR1 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000814326 | 2012 | ESR2 | 14 | 64233098 | C | T |
| rs5443 | 17559964 | 2784 | GNB3 | umls:C0019693 | BeFree | The GNB3 C825T polymorphism affects response to HCV therapy with pegylated interferon in HCV/HIV co-infected but not in HCV mono-infected patients. | 0.00554839 | 2007 | GNB3;CDCA3 | 12 | 6845711 | C | T |
| rs5443 | 16354603 | 2784 | GNB3 | umls:C0019693 | BeFree | GNB3 C825T polymorphism and response to anti-retroviral combination therapy in HIV-1-infected patients--a pilot study. | 0.00554839 | 2005 | GNB3;CDCA3 | 12 | 6845711 | C | T |
| rs5443 | 22214232 | 2784 | GNB3 | umls:C0019693 | BeFree | The role of G protein gene GNB3 C825T polymorphism in HIV-1 acquisition, progression and immune activation. | 0.00554839 | 2012 | GNB3;CDCA3 | 12 | 6845711 | C | T |
| rs56308434 | 19486190 | 1555 | CYP2B6 | umls:C0019693 | BeFree | CYP2B6 G516T genotyping in a UK cohort of HIV-positive patients: polymorphism frequency and influence on efavirenz discontinuation. | 0.086135759 | 2009 | NA | NA | NA | NA | NA |
| rs56308434 | 23970651 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Seventy-two adult Chinese HIV-positive treatment-naïve patients were recruited in a study to evaluate prospectively the associations between CYP2B6 516 G/T polymorphisms and sleep quality following treatment with an efavirenz-based regimen. | 0.086135759 | 2014 | NA | NA | NA | NA | NA |
| rs56308434 | 17352764 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Cytochrome P450 2B6 (CYP2B6) G516T influences nevirapine plasma concentrations in HIV-infected patients in Uganda. | 0.086135759 | 2007 | NA | NA | NA | NA | NA |
| rs56308434 | 24551111 | 1555 | CYP2B6 | umls:C0019693 | BeFree | HIV-infected patients with or without TB who had received combination antiretroviral therapy containing efavirenz (600 mg daily) for two weeks or greater were enrolled for determinations of CYP2B6 G516T polymorphism and plasma efavirenz concentrations with the use of polymerase-chain-reaction restriction fragment-length polymorphism and high-performance liquid chromatography, respectively. | 0.086135759 | 2014 | NA | NA | NA | NA | NA |
| rs56308434 | 17356468 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Efavirenz pharmacokinetics in HIV-1-infected children are associated with CYP2B6-G516T polymorphism. | 0.086135759 | 2007 | NA | NA | NA | NA | NA |
| rs56308434 | 22297601 | 1555 | CYP2B6 | umls:C0019693 | BeFree | Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected South African patients. | 0.086135759 | 2012 | NA | NA | NA | NA | NA |
| rs56308434 | 22297601 | 5243 | ABCB1 | umls:C0019693 | BeFree | Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected South African patients. | 0.083149899 | 2012 | NA | NA | NA | NA | NA |
| rs5743704 | 18769358 | 7097 | TLR2 | umls:C0019693 | BeFree | : To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (1892A/C and 2258G/A), TLR4 (896A/G and 1196C/T), and TLR9 (1635A/G) genes on CD4 count, HIV viral load, and clinical progression in a cohort of naive HIV-infected patients. | 0.016449672 | 2008 | TLR2 | 4 | 153704799 | C | A |
| rs5743708 | 18769358 | 7097 | TLR2 | umls:C0019693 | BeFree | : To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (1892A/C and 2258G/A), TLR4 (896A/G and 1196C/T), and TLR9 (1635A/G) genes on CD4 count, HIV viral load, and clinical progression in a cohort of naive HIV-infected patients. | 0.016449672 | 2008 | TLR2 | 4 | 153705165 | G | A |
| rs6003904 | 24463784 | 6598 | SMARCB1 | umls:C0019693 | BeFree | Candidate SNP PPIA rs8177826 and tagSNP SMARCB1 rs6003904 were significantly associated with HIV-1 acquisition risk (odds ratio = 0.14, P = 0.03, and odds ratio = 2.11, Pcorr = 0.01, respectively). | 0.000814326 | 2014 | SMARCB1 | 22 | 23831207 | A | G |
| rs6003904 | 24463784 | 5478 | PPIA | umls:C0019693 | BeFree | Candidate SNP PPIA rs8177826 and tagSNP SMARCB1 rs6003904 were significantly associated with HIV-1 acquisition risk (odds ratio = 0.14, P = 0.03, and odds ratio = 2.11, Pcorr = 0.01, respectively). | 0.012062995 | 2014 | SMARCB1 | 22 | 23831207 | A | G |
| rs62559044 | 21926633 | 3558 | IL2 | umls:C0019693 | BeFree | Known single-nucleotide polymorphism genes in the genes encoding interferon γ (874A>T, rs62559044) and interleukin 2 (-330T>G, rs2069763) were genotyped in 66 HIV+ patients, and the impact of single-nucleotide polymorphisms on expression of ABCB1, ABCC1, ABCC2, CXCR4, and CCR5 in peripheral blood mononuclear cells from HIV+ patients was assessed. | 0.158402788 | 2011 | IFNA1 | 9 | 21439837 | A | T |
| rs6280 | 21491142 | 1814 | DRD3 | umls:C0019693 | BeFree | Dopamine receptor D3 genetic polymorphism (rs6280TC) is associated with rates of cognitive impairment in methamphetamine-dependent men with HIV: preliminary findings. | 0.000271442 | 2011 | DRD3 | 3 | 114171968 | C | T |
| rs662799 | 25500319 | 116519 | APOA5 | umls:C0019693 | BeFree | In conclusion, polymorphisms in genes associated to the development of atherogenic dyslipidemia, especially variants in APOA5 gene (rs3135506 and rs662799), can influence the circulating CD4 T-cell levels in chronically HIV-infected patients. | 0.005276948 | 2014 | APOA5 | 11 | 116792991 | G | A |
| rs67384697 | 22577363 | 3813 | KIR3DS1 | umls:C0019693 | BeFree | This includes several HLA class I alleles associated with HIV-1 control; amino acid residues at HLA-B positions 67, 70, and 97 that mediate HIV-1 peptide binding; and the deletion polymorphism rs67384697 associated with high surface expression of HLA-C. We also found that the compound genotype KIR3DS1 plus HLA-B Bw4-80I, which respectively encode a natural killer cell activating receptor and its putative ligand, significantly increased psoriasis susceptibility. | 0.016992555 | 2012 | HLA-C | 6 | 31268906 | C | - |
| rs67384697 | 22577363 | 3106 | HLA-B | umls:C0019693 | BeFree | This includes several HLA class I alleles associated with HIV-1 control; amino acid residues at HLA-B positions 67, 70, and 97 that mediate HIV-1 peptide binding; and the deletion polymorphism rs67384697 associated with high surface expression of HLA-C. We also found that the compound genotype KIR3DS1 plus HLA-B Bw4-80I, which respectively encode a natural killer cell activating receptor and its putative ligand, significantly increased psoriasis susceptibility. | 0.255122563 | 2012 | HLA-C | 6 | 31268906 | C | - |
| rs67384697 | 22577363 | 3107 | HLA-C | umls:C0019693 | BeFree | This includes several HLA class I alleles associated with HIV-1 control; amino acid residues at HLA-B positions 67, 70, and 97 that mediate HIV-1 peptide binding; and the deletion polymorphism rs67384697 associated with high surface expression of HLA-C. We also found that the compound genotype KIR3DS1 plus HLA-B Bw4-80I, which respectively encode a natural killer cell activating receptor and its putative ligand, significantly increased psoriasis susceptibility. | 0.196134679 | 2012 | HLA-C | 6 | 31268906 | C | - |
| rs6897932 | 25421942 | 3574 | IL7 | umls:C0019693 | BeFree | The T-allele in the single nucleotide polymorphism rs6897932 in the gene encoding the IL-7 receptor α (IL7RA) is associated with reduced risk of autoimmune diseases including multiple sclerosis and also affects the course of HIV infection. | 0.010867606 | 2014 | IL7R | 5 | 35874473 | C | T |
| rs6897932 | 25421942 | 3575 | IL7R | umls:C0019693 | BeFree | The T-allele in the single nucleotide polymorphism rs6897932 in the gene encoding the IL-7 receptor α (IL7RA) is associated with reduced risk of autoimmune diseases including multiple sclerosis and also affects the course of HIV infection. | 0.015697478 | 2014 | IL7R | 5 | 35874473 | C | T |
| rs7154455 | 22011627 | 2099 | ESR1 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000814326 | 2012 | ESR2 | 14 | 64269942 | G | C |
| rs7154455 | 22011627 | 2100 | ESR2 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000271442 | 2012 | ESR2 | 14 | 64269942 | G | C |
| rs7248668 | 23103287 | 282617 | IFNL3 | umls:C0019693 | BeFree | The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs7248668 G) are associated with increased odds of liver disease severity in HIV patients infected with HCV-genotype 3. | 0.032584294 | 2013 | NA | 19 | 39253181 | G | A |
| rs738409 | 24642579 | 80339 | PNPLA3 | umls:C0019693 | BeFree | CT-defined fatty liver is common among men at risk for HIV infection and is associated with greater visceral adiposity, HOMA-IR, and PNPLA3 (rs738409). | 0.000542884 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs7757956 | 22011627 | 2100 | ESR2 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000271442 | 2012 | ESR1 | 6 | 151996005 | T | A |
| rs7757956 | 22011627 | 2099 | ESR1 | umls:C0019693 | BeFree | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART. | 0.000814326 | 2012 | ESR1 | 6 | 151996005 | T | A |
| rs8099917 | 23029188 | 282617 | IFNL3 | umls:C0019693 | BeFree | Polymorphisms of rs12979860 and rs8099917 near IL28B only associate with the treatment response to PegIFN/RBV in patients infected with HCV genotype 1 or 4 but not with genotype 2 or 3, irrespective of the previous treatment history or HIV co-infected status. | 0.032584294 | 2012 | NA | 19 | 39252525 | T | G |
| rs8099917 | 23103287 | 282617 | IFNL3 | umls:C0019693 | BeFree | The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs7248668 G) are associated with increased odds of liver disease severity in HIV patients infected with HCV-genotype 3. | 0.032584294 | 2013 | NA | 19 | 39252525 | T | G |
| rs8099917 | 21048934 | 282617 | IFNL3 | umls:C0019693 | GAD | [IL28B SNP rs8099917 is strongly associated with pegylated interferon-I+- and ribavirin therapy treatment failure in HCV/HIV-1 coinfected patients.] | 0.032584294 | 2010 | NA | 19 | 39252525 | T | G |
| rs8099917 | 21048934 | 282617 | IFNL3 | umls:C0019693 | BeFree | IL28B SNP rs8099917 is strongly associated with pegylated interferon-α and ribavirin therapy treatment failure in HCV/HIV-1 coinfected patients. | 0.032584294 | 2010 | NA | 19 | 39252525 | T | G |
| rs8177826 | 24463784 | 5478 | PPIA | umls:C0019693 | BeFree | Candidate SNP PPIA rs8177826 and tagSNP SMARCB1 rs6003904 were significantly associated with HIV-1 acquisition risk (odds ratio = 0.14, P = 0.03, and odds ratio = 2.11, Pcorr = 0.01, respectively). | 0.012062995 | 2014 | PPIA;LOC105375259 | 7 | 44796669 | C | G |
| rs8177826 | 24463784 | 6598 | SMARCB1 | umls:C0019693 | BeFree | Candidate SNP PPIA rs8177826 and tagSNP SMARCB1 rs6003904 were significantly associated with HIV-1 acquisition risk (odds ratio = 0.14, P = 0.03, and odds ratio = 2.11, Pcorr = 0.01, respectively). | 0.000814326 | 2014 | PPIA;LOC105375259 | 7 | 44796669 | C | G |
| rs8177832 | 18652534 | 60489 | APOBEC3G | umls:C0019693 | BeFree | In conclusion, we demonstrated that no genetic H186R polymorphism in exon 4 of APOBEC3G gene is found and therefore neither associated with differential susceptibility to HIV-1 infection/progression among North Indians. | 0.03579799 | 2008 | APOBEC3G | 22 | 39081561 | A | G |
| rs909253 | 19654554 | 4049 | LTA | umls:C0019693 | BeFree | Two single nucleotide polymorphisms (SNPs) in adjacent genes, lymphotoxin alpha (LTA +252G, rs909253 A>G) and tumor necrosis factor (TNF -308A, rs1800629 G>A), form the G-A haplotype repeatedly associated with increased risk of non-Hodgkin lymphoma (NHL) in individuals uninfected with HIV-1. | 0.000814326 | 2009 | LTA;LOC100287329 | 6 | 31572536 | A | G |
| rs9264942 | 20552027 | 3106 | HLA-B | umls:C0019693 | BeFree | Statistical differences in frequency of protective HLA-B alleles (p-0.01), HLA-C rs9264942 (p-0.06), and protective CCR5/CCR2 haplotypes (p-0.02) across groups, and the presence of viruses with an ancestral genotype in the viral dating (i.e., nucleotide sequences with low viral divergence from the most recent common ancestor) support the differences among principal clinical groups of HIV-1 infected individuals. | 0.255122563 | 2010 | LOC105375015;LOC105379660;LOC105379667 | 6 | 31306603 | T | C |
| rs9264942 | 20552027 | 729230 | CCR2 | umls:C0019693 | BeFree | Statistical differences in frequency of protective HLA-B alleles (p-0.01), HLA-C rs9264942 (p-0.06), and protective CCR5/CCR2 haplotypes (p-0.02) across groups, and the presence of viruses with an ancestral genotype in the viral dating (i.e., nucleotide sequences with low viral divergence from the most recent common ancestor) support the differences among principal clinical groups of HIV-1 infected individuals. | 0.047904591 | 2010 | LOC105375015;LOC105379660;LOC105379667 | 6 | 31306603 | T | C |
| rs9264942 | 21860345 | 10866 | HCP5 | umls:C0019693 | BeFree | We compared the association between viral load set point and HCP5 rs2395029, -35HLA-C rs9264942, and the CCR5wt/Δ32 genotype in HIV-1-infected individuals in the Netherlands who had seroconverted between 1982 and 2002 (pre-2003 seroconverters, n = 459) or between 2003 and 2009 (post-2003 seroconverters, n = 231). | 0.009544073 | 2011 | LOC105375015;LOC105379660;LOC105379667 | 6 | 31306603 | T | C |
| rs9264942 | 24759677 | 3107 | HLA-C | umls:C0019693 | BeFree | rs9264942T>C polymorphism in HLA-C gene was found to impact on HLA-C surface expression level and to be associated with HIV-1 control. | 0.196134679 | 2014 | LOC105375015;LOC105379660;LOC105379667 | 6 | 31306603 | T | C |
