All Snps(Total Genotypes:128) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs1015362 | 19384953 | 434 | ASIP | umls:C0007137 | BeFree | The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). | 0.002638474 | 2009 | NA | 20 | 34150806 | C | T |
| rs1015362 | 19384953 | 56288 | PARD3 | umls:C0007137 | BeFree | The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). | 0.000542884 | 2009 | NA | 20 | 34150806 | C | T |
| rs1042522 | 19383811 | 7157 | TP53 | umls:C0007137 | BeFree | In a large prospective cohort, p53 Arg72Pro Pro/Pro was associated with a 2-fold increased risk of death in all esophageal cancers, whereas MDM2 T309G G/G was associated with a 7-fold increased risk of death in squamous cell carcinoma. | 0.44 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 15609317 | 7157 | TP53 | umls:C0007137 | BeFree | An SNP, Arg72Pro, of the TP53 gene encoding a DNA damage response protein showed the strongest association with squamous cell carcinoma risk (OR Pro/Pro vs. Arg/Arg = 2.2), while 2 other SNPs, Phe257Ser of the REV gene encoding a translesion DNA polymerase and Ile658Val of the LIG4 gene encoding a DNA double-strand break repair protein, also showed associations (OR Ser/Ser vs. Phe/Phe = 2.0 and OR Ile/Val vs. Ile/Ile = 0.4, respectively). | 0.44 | 2005 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 25436609 | 7157 | TP53 | umls:C0007137 | BeFree | In this study, we analyzed the association of TP53 Pro72Arg polymorphism with squamous cell carcinoma of oral tongue (SCCOT) and esophagus (ESCC) in India. | 0.44 | 2014 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 19383811 | 4193 | MDM2 | umls:C0007137 | BeFree | In a large prospective cohort, p53 Arg72Pro Pro/Pro was associated with a 2-fold increased risk of death in all esophageal cancers, whereas MDM2 T309G G/G was associated with a 7-fold increased risk of death in squamous cell carcinoma. | 0.030332933 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18814047 | 4193 | MDM2 | umls:C0007137 | BeFree | We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. | 0.030332933 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 15609317 | 3981 | LIG4 | umls:C0007137 | BeFree | An SNP, Arg72Pro, of the TP53 gene encoding a DNA damage response protein showed the strongest association with squamous cell carcinoma risk (OR Pro/Pro vs. Arg/Arg = 2.2), while 2 other SNPs, Phe257Ser of the REV gene encoding a translesion DNA polymerase and Ile658Val of the LIG4 gene encoding a DNA double-strand break repair protein, also showed associations (OR Ser/Ser vs. Phe/Phe = 2.0 and OR Ile/Val vs. Ile/Ile = 0.4, respectively). | 0.002909916 | 2005 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23317414 | 7157 | TP53 | umls:C0007137 | BeFree | Polymorphism Arg72Pro of p53 confers susceptibility to squamous cell carcinoma of lungs in a North Indian population. | 0.44 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18814047 | 7157 | TP53 | umls:C0007137 | BeFree | We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. | 0.44 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17059853 | 7157 | TP53 | umls:C0007137 | BeFree | Our data indicate that the TP53 Arg72Pro polymorphism increases the risk for squamous-cell carcinoma mainly in heavy smokers. | 0.44 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1048943 | 22952673 | 1543 | CYP1A1 | umls:C0007137 | BeFree | CYP1A1 Ile462Val polymorphism contributes to lung cancer susceptibility among lung squamous carcinoma and smokers: a meta-analysis. | 0.075935301 | 2012 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1050298 | 24929328 | 26018 | LRIG1 | umls:C0007137 | BeFree | Individuals carrying the LIG1 rs1050298 T genotype had higher risks of lung cancer, especially those with squamous cell carcinoma. | 0.000542884 | 2014 | PHKB | 16 | 47665979 | G | T |
| rs1052133 | 21727658 | 4968 | OGG1 | umls:C0007137 | BeFree | Protective association exhibited by the single nucleotide polymorphism (SNP) rs1052133 in the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head & neck (SCCHN) among north Indians. | 0.01864107 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1126809 | 19384953 | 7299 | TYR | umls:C0007137 | BeFree | The TYR haplotype carrying only the Arg402Gln variant allele was significantly associated with SCC risk (OR, 1.35; 95% CI, 1.04-1.74). | 0.002638474 | 2009 | TYR | 11 | 89284793 | G | A |
| rs1130409 | 21198260 | 328 | APEX1 | umls:C0007137 | BeFree | We found a statistically significant interaction between APEX1 Asp148Glu and the risk for lung cancer (adjusted OR 2.78, 95% CI 1.58-4.90, p=0.0004), of both adenocarcinoma (adjusted OR 2.24, 95%CI 1.18-4.25, p=0.014) and squamous cell carcinoma (adjusted OR 4.75, 95%CI 1.79-12.6, p=0.002) types. | 0.000542884 | 2010 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs115169993 | 23822953 | 4921 | DDR2 | umls:C0007137 | BeFree | Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstrated that SHP-2 is tyrosine-phosphorylated by the L63V and G505S mutants. | 0.001628651 | 2013 | DDR2 | 1 | 162772032 | G | A |
| rs115169993 | 23822953 | 5781 | PTPN11 | umls:C0007137 | BeFree | Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstrated that SHP-2 is tyrosine-phosphorylated by the L63V and G505S mutants. | 0.000271442 | 2013 | DDR2 | 1 | 162772032 | G | A |
| rs11540654 | 19383811 | 4193 | MDM2 | umls:C0007137 | BeFree | In a large prospective cohort, p53 Arg72Pro Pro/Pro was associated with a 2-fold increased risk of death in all esophageal cancers, whereas MDM2 T309G G/G was associated with a 7-fold increased risk of death in squamous cell carcinoma. | 0.030332933 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 15609317 | 7157 | TP53 | umls:C0007137 | BeFree | An SNP, Arg72Pro, of the TP53 gene encoding a DNA damage response protein showed the strongest association with squamous cell carcinoma risk (OR Pro/Pro vs. Arg/Arg = 2.2), while 2 other SNPs, Phe257Ser of the REV gene encoding a translesion DNA polymerase and Ile658Val of the LIG4 gene encoding a DNA double-strand break repair protein, also showed associations (OR Ser/Ser vs. Phe/Phe = 2.0 and OR Ile/Val vs. Ile/Ile = 0.4, respectively). | 0.44 | 2005 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23317414 | 7157 | TP53 | umls:C0007137 | BeFree | Polymorphism Arg72Pro of p53 confers susceptibility to squamous cell carcinoma of lungs in a North Indian population. | 0.44 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 15609317 | 3981 | LIG4 | umls:C0007137 | BeFree | An SNP, Arg72Pro, of the TP53 gene encoding a DNA damage response protein showed the strongest association with squamous cell carcinoma risk (OR Pro/Pro vs. Arg/Arg = 2.2), while 2 other SNPs, Phe257Ser of the REV gene encoding a translesion DNA polymerase and Ile658Val of the LIG4 gene encoding a DNA double-strand break repair protein, also showed associations (OR Ser/Ser vs. Phe/Phe = 2.0 and OR Ile/Val vs. Ile/Ile = 0.4, respectively). | 0.002909916 | 2005 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18814047 | 7157 | TP53 | umls:C0007137 | BeFree | We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. | 0.44 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17059853 | 7157 | TP53 | umls:C0007137 | BeFree | Our data indicate that the TP53 Arg72Pro polymorphism increases the risk for squamous-cell carcinoma mainly in heavy smokers. | 0.44 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 19383811 | 7157 | TP53 | umls:C0007137 | BeFree | In a large prospective cohort, p53 Arg72Pro Pro/Pro was associated with a 2-fold increased risk of death in all esophageal cancers, whereas MDM2 T309G G/G was associated with a 7-fold increased risk of death in squamous cell carcinoma. | 0.44 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18814047 | 4193 | MDM2 | umls:C0007137 | BeFree | We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. | 0.030332933 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11571833 | 25838448 | 675 | BRCA2 | umls:C0007137 | BeFree | We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies.All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations. | 0.019170141 | 2015 | BRCA2 | 13 | 32398489 | A | T |
| rs121434568 | 24369725 | 1956 | EGFR | umls:C0007137 | BeFree | Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutations (19del: 16, L858R: 10) except one (squamous cell carcinoma with 19del). | 0.276687359 | 2013 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 22948846 | 4233 | MET | umls:C0007137 | BeFree | Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). | 0.128977445 | 2013 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 24583857 | 1956 | EGFR | umls:C0007137 | BeFree | We used four NSCLC cell lines-A549 (wild-type EGFR), H1650 (mutant EGFR; del E746_A750), H1975 (mutant EGFR; L858R, T790M) and H3255 (mutant EGFR; L858R)-and one epidermoid carcinoma cell line, A431 (wild-type EGFR). | 0.276687359 | 2014 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 22948846 | 1956 | EGFR | umls:C0007137 | BeFree | Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). | 0.276687359 | 2013 | EGFR | 7 | 55191822 | T | G |
| rs121434569 | 24583857 | 1956 | EGFR | umls:C0007137 | BeFree | We used four NSCLC cell lines-A549 (wild-type EGFR), H1650 (mutant EGFR; del E746_A750), H1975 (mutant EGFR; L858R, T790M) and H3255 (mutant EGFR; L858R)-and one epidermoid carcinoma cell line, A431 (wild-type EGFR). | 0.276687359 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 21635547 | 1956 | EGFR | umls:C0007137 | BeFree | We analyzed 147 NSCLC tissues [70 adenocarcinomas (AD), 62 squamous cell carcinomas (SQ), 12 large cell carcinomas (LC), and three adenosquamous carcinomas] that had not been exposed to the TKI therapies, and found 12 (8.2%; 12/147) EGFR T790M mutation in eight AD (11.4%), three SQ (4.8%), and one LC (8.3%) by the PNA-clamping PCR. | 0.276687359 | 2011 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22948846 | 1956 | EGFR | umls:C0007137 | BeFree | Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). | 0.276687359 | 2013 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22948846 | 4233 | MET | umls:C0007137 | BeFree | Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). | 0.128977445 | 2013 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121912654 | 17294448 | 3105 | HLA-A | umls:C0007137 | BeFree | Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of the head and neck (SCCHN) indicated that 6/13 p53 missense mutations that were detected, S149C, T150R, V157F, Y220C, Y220H and E271K, occurred within HLA-A2-restricted cytotoxic T lymphocyte (CTL)-defined p53 epitopes. | 0.003181358 | 2007 | TP53 | 17 | 7675143 | C | T,A |
| rs121913466 | 24040454 | 1956 | EGFR | umls:C0007137 | BeFree | EGFR mutations were identified in 140 (55.8%) NSCLC patients (118 in adenocarcinoma, 11 in squamous cell carcinoma, 7 in adenocarcinoma and 4 in NSCLC-not otherwise specified), including four novel substitutions (L718M, A743V, L815P, V819E). | 0.276687359 | 2013 | EGFR | 7 | 55174762 | T | C |
| rs121913483 | 11605053 | 2261 | FGFR3 | umls:C0007137 | BeFree | Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous cell carcinomas. | 0.004267125 | 2001 | FGFR3 | 4 | 1801841 | C | G,T |
| rs121913535 | 24040454 | 3845 | KRAS | umls:C0007137 | BeFree | KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma and one in NSCLC-not otherwise specified), including an uncommon substitution G13C. | 0.155276307 | 2013 | KRAS | 12 | 25245348 | C | T,G,A |
| rs12203592 | 21270109 | 4948 | OCA2 | umls:C0007137 | BeFree | Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC). | 0.002909916 | 2011 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 21270109 | 3662 | IRF4 | umls:C0007137 | BeFree | Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC). | 0.000271442 | 2011 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 21270109 | 4157 | MC1R | umls:C0007137 | BeFree | Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC). | 0.006091273 | 2011 | IRF4 | 6 | 396321 | C | T |
| rs12296850 | 23341777 | 9971 | NR1H4 | umls:C0007137 | BeFree | We found that rs12296850 in SLC17A8-NR1H4 gene region at12q23.1 was significantly associated with risk of lung SqCC at genome-wide significance level [additive model: odds ratio (OR) = 0.78, 95% confidence interval (CI) = 0.72-0.84, P = 1.19×10(-10)]. | 0.000271442 | 2013 | NA | 12 | 100426307 | A | G |
| rs12296850 | 23341777 | 246213 | SLC17A8 | umls:C0007137 | BeFree | We found that rs12296850 in SLC17A8-NR1H4 gene region at12q23.1 was significantly associated with risk of lung SqCC at genome-wide significance level [additive model: odds ratio (OR) = 0.78, 95% confidence interval (CI) = 0.72-0.84, P = 1.19×10(-10)]. | 0.000271442 | 2013 | NA | 12 | 100426307 | A | G |
| rs13181 | 19615095 | 2068 | ERCC2 | umls:C0007137 | BeFree | Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population. | 0.175575822 | 2009 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs1333040 | 22899653 | 1030 | CDKN2B | umls:C0007137 | BeFree | Subgroup analysis also identified a novel disease locus for squamous cell carcinoma at 9p21 (CDKN2A/p16(INK4A)/p14(ARF)/CDKN2B/p15(INK4B)/ANRIL; rs1333040, P = 3.0 × 10(-7)) which was replicated in a series of 5415 Han Chinese (P = 0.03; combined analysis, P = 2.3 × 10(-8)). | 0.011887361 | 2012 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1333040 | 22899653 | 100048912 | CDKN2B-AS1 | umls:C0007137 | BeFree | Subgroup analysis also identified a novel disease locus for squamous cell carcinoma at 9p21 (CDKN2A/p16(INK4A)/p14(ARF)/CDKN2B/p15(INK4B)/ANRIL; rs1333040, P = 3.0 × 10(-7)) which was replicated in a series of 5415 Han Chinese (P = 0.03; combined analysis, P = 2.3 × 10(-8)). | 0.000542884 | 2012 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1333040 | 22899653 | 1029 | CDKN2A | umls:C0007137 | BeFree | Subgroup analysis also identified a novel disease locus for squamous cell carcinoma at 9p21 (CDKN2A/p16(INK4A)/p14(ARF)/CDKN2B/p15(INK4B)/ANRIL; rs1333040, P = 3.0 × 10(-7)) which was replicated in a series of 5415 Han Chinese (P = 0.03; combined analysis, P = 2.3 × 10(-8)). | 0.144494883 | 2012 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs142616668 | 21676483 | 2067 | ERCC1 | umls:C0007137 | BeFree | Subgroup analysis revealed that ERCC1 118 C/T or T/T was associated with increased survival in elderly patients (P=0.018), male (P=0.022), squamous carcinoma (P=0.003), smoker (P=0.076) and those treated with non-gemcitabine/cisplatin or carboplatin (non-GP/GC) regimen (P=0.023). | 0.004810009 | 2012 | ERCC1;PPP1R13L;CD3EAP | 19 | 45407183 | C | T |
| rs144594252 | 23822953 | 4921 | DDR2 | umls:C0007137 | BeFree | Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstrated that SHP-2 is tyrosine-phosphorylated by the L63V and G505S mutants. | 0.001628651 | 2013 | DDR2 | 1 | 162754625 | C | G |
| rs144594252 | 23822953 | 5781 | PTPN11 | umls:C0007137 | BeFree | Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstrated that SHP-2 is tyrosine-phosphorylated by the L63V and G505S mutants. | 0.000271442 | 2013 | DDR2 | 1 | 162754625 | C | G |
| rs16891982 | 19578363 | 51151 | SLC45A2 | umls:C0007137 | BeFree | A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. | 0.123181358 | 2009 | SLC45A2 | 5 | 33951588 | C | G |
| rs17577 | 19064570 | 4318 | MMP9 | umls:C0007137 | BeFree | This study provides evidence for the contribution of the MMP9 Arg668Gln to SCC development. | 0.16304067 | 2008 | MMP9 | 20 | 46014472 | G | A,C |
| rs17655 | 16094634 | 2073 | ERCC5 | umls:C0007137 | BeFree | We investigated the effects of XPG His1104Asp polymorphism (rs17655) on the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus (SCCOLE). | 0.005905708 | 2006 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs1800566 | 16702380 | 1728 | NQO1 | umls:C0007137 | BeFree | In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated with slightly increased lung cancer risk in white ever smokers but not in white never smokers and were mainly associated with a reduced risk of lung adenocarcinoma but not squamous cell carcinoma in Asians. | 0.019183953 | 2006 | NQO1 | 16 | 69711242 | G | A |
| rs1800625 | 25582438 | 101669765 | LINC00914 | umls:C0007137 | BeFree | These results indicate an involvement of RAGE SNP rs1800625 in the development of oral squamous cell carcinoma and implicate the interaction between RAGE gene polymorphisms and environmental mutagens as a predisposing factor of oral carcinogenesis. | 0.000271442 | 2015 | AGER;PBX2 | 6 | 32184665 | A | G |
| rs1800975 | 21195504 | 7507 | XPA | umls:C0007137 | BeFree | Although smoking is the dominant risk factor of lung cancer, XPA -4G>A (rs1800975) is also associated with the risk of NSCLC, especially for squamous cell carcinoma, among Asian young smokers. | 0.013635564 | 2011 | XPA | 9 | 97697296 | T | G,C |
| rs1801270 | 17059853 | 5063 | PAK3 | umls:C0007137 | BeFree | The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate-risk allele for squamous-cell carcinoma. | 0.000542884 | 2007 | CDKN1A | 6 | 36684194 | C | A,T |
| rs1805077 | 17059853 | 5063 | PAK3 | umls:C0007137 | BeFree | The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate-risk allele for squamous-cell carcinoma. | 0.000542884 | 2007 | PAK3 | X | 111123196 | C | A |
| rs1805087 | 16333305 | 4548 | MTR | umls:C0007137 | BeFree | The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate Reductase C677T, Methionine Synthase A2756G, Thymidilate Synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinoma. | 0.007372538 | 2006 | MTR | 1 | 236885200 | A | G |
| rs181696 | 22658813 | 23007 | PLCH1 | umls:C0007137 | BeFree | Moreover, the PLCH1 rs181696 SNP was strongly associated with an increased risk of SQC, which suggests that this SNP may be a risk factor for developing SQC. | 0.000271442 | 2013 | PLCH1 | 3 | 155548315 | T | C |
| rs181696 | 22658813 | 1312 | COMT | umls:C0007137 | BeFree | The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 rs181696 were associated with ADC and SQC, respectively (odds ratio [OR] 0.61 and OR 2.01, respectively). | 0.000271442 | 2013 | PLCH1 | 3 | 155548315 | T | C |
| rs187115 | 24699672 | 960 | CD44 | umls:C0007137 | BeFree | The CD44 rs187115 polymorphism has potential predictive significance in oral carcinogenesis and also may be applied as factors to predict the clinical stage in OSCC patients. | 0.021493566 | 2014 | CD44 | 11 | 35154612 | T | C |
| rs2229094 | 26241630 | 23765 | IL17RA | umls:C0007137 | BeFree | Statistically significant risks were observed for HPV16-containing SCC of the cervix with the variant allele rs879576 in IL17RA and rs2229094 in TNF [OR, 95% CI and multiple-testing corrected p: 1.91 (1.30-2.79), p=0.018 and 0.61 (0.45-0.83), p=0.02, respectively]. | 0.000271442 | 2015 | LTA;LOC100287329 | 6 | 31572779 | T | C |
| rs2229094 | 26241630 | 7124 | TNF | umls:C0007137 | BeFree | Statistically significant risks were observed for HPV16-containing SCC of the cervix with the variant allele rs879576 in IL17RA and rs2229094 in TNF [OR, 95% CI and multiple-testing corrected p: 1.91 (1.30-2.79), p=0.018 and 0.61 (0.45-0.83), p=0.02, respectively]. | 0.02507973 | 2015 | LTA;LOC100287329 | 6 | 31572779 | T | C |
| rs2230600 | 19672627 | 5783 | PTPN13 | umls:C0007137 | BeFree | In the PTPN13, major homozygotes of Ile1522Met showed an increased risk for lung squamous cell carcinomas (aOR 1.86), compared to the heterozygotes. | 0.002909916 | 2010 | PTPN13 | 4 | 86769845 | A | G |
| rs2230641 | 21676483 | 902 | CCNH | umls:C0007137 | BeFree | Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer survival in the squamous cell carcinoma subgroup (P=0.047 and P=0.034 respectively). | 0.000271442 | 2012 | CCNH | 5 | 87399457 | A | T,G |
| rs2230641 | 21676483 | 2068 | ERCC2 | umls:C0007137 | BeFree | Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer survival in the squamous cell carcinoma subgroup (P=0.047 and P=0.034 respectively). | 0.175575822 | 2012 | CCNH | 5 | 87399457 | A | T,G |
| rs2232641 | 15609317 | 7157 | TP53 | umls:C0007137 | BeFree | An SNP, Arg72Pro, of the TP53 gene encoding a DNA damage response protein showed the strongest association with squamous cell carcinoma risk (OR Pro/Pro vs. Arg/Arg = 2.2), while 2 other SNPs, Phe257Ser of the REV gene encoding a translesion DNA polymerase and Ile658Val of the LIG4 gene encoding a DNA double-strand break repair protein, also showed associations (OR Ser/Ser vs. Phe/Phe = 2.0 and OR Ile/Val vs. Ile/Ile = 0.4, respectively). | 0.44 | 2005 | LIG4 | 13 | 108209297 | T | C |
| rs2232641 | 15609317 | 3981 | LIG4 | umls:C0007137 | BeFree | An SNP, Arg72Pro, of the TP53 gene encoding a DNA damage response protein showed the strongest association with squamous cell carcinoma risk (OR Pro/Pro vs. Arg/Arg = 2.2), while 2 other SNPs, Phe257Ser of the REV gene encoding a translesion DNA polymerase and Ile658Val of the LIG4 gene encoding a DNA double-strand break repair protein, also showed associations (OR Ser/Ser vs. Phe/Phe = 2.0 and OR Ile/Val vs. Ile/Ile = 0.4, respectively). | 0.002909916 | 2005 | LIG4 | 13 | 108209297 | T | C |
| rs2267437 | 19251090 | 2547 | XRCC6 | umls:C0007137 | GAD | [Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes.] | 0.002367032 | 2009 | XRCC6;DESI1 | 22 | 41620695 | C | G |
| rs2274223 | 23826241 | 51196 | PLCE1 | umls:C0007137 | BeFree | In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a statistically significant association with an increasing risk of ESCC and gastric cancer. | 0.008544182 | 2013 | PLCE1 | 10 | 94306584 | A | G |
| rs2274223 | 22805490 | 51196 | PLCE1 | umls:C0751688 | BeFree | Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.3-1.0), but not oesphageal adenocarcinoma. | 0.000271442 | 2012 | PLCE1 | 10 | 94306584 | A | G |
| rs2274223 | 22805490 | 51196 | PLCE1 | umls:C0007137 | BeFree | Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.3-1.0), but not oesphageal adenocarcinoma. | 0.008544182 | 2012 | PLCE1 | 10 | 94306584 | A | G |
| rs2498801 | 25550560 | 207 | AKT1 | umls:C0007137 | BeFree | Akt1 rs2498801 is related to survival in head and neck squamous cell cancer treated with radiotherapy. | 0.131701795 | 2015 | AKT1;LOC102723342 | 14 | 104769221 | T | C |
| rs2498801 | 25550560 | 207 | AKT1 | umls:C0751688 | BeFree | Akt1 rs2498801 is related to survival in head and neck squamous cell cancer treated with radiotherapy. | 0.000271442 | 2015 | AKT1;LOC102723342 | 14 | 104769221 | T | C |
| rs25487 | 25218703 | 7517 | XRCC3 | umls:C0007137 | BeFree | The results indicate an increased risk of squamous cell carcinoma (SCC) for the homozygous variant genotype of XRCC1 R399Q (OR 2.53, 95% CI 1.14-5.65) and a protective effect against basal cell carcinoma (BCC) for the homozygous variant genotype of XRCC3 T241M (OR 0.61, 95% CI 0.41-0.92), compared with the respective homozygous common genotypes. | 0.015373836 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25218703 | 7515 | XRCC1 | umls:C0007137 | BeFree | The results indicate an increased risk of squamous cell carcinoma (SCC) for the homozygous variant genotype of XRCC1 R399Q (OR 2.53, 95% CI 1.14-5.65) and a protective effect against basal cell carcinoma (BCC) for the homozygous variant genotype of XRCC3 T241M (OR 0.61, 95% CI 0.41-0.92), compared with the respective homozygous common genotypes. | 0.063405368 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23359058 | 7515 | XRCC1 | umls:C0007137 | BeFree | We conclude that the XRCC1 Arg399Gln polymorphism has potential as a biomarker for EC susceptibility in the Chinese population, particularly for squamous cell carcinoma. | 0.063405368 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs2736158 | 23221128 | 7916 | PRRC2A | umls:C0007137 | BeFree | Associations on 6p22.1-p21.31 were histology specific and included a missense variant in BAT2 associated with squamous cell carcinoma (rs2736158: OR, 0.64; 95% CI, 0.48-0.85; P, 1.82 × 10(-3)). | 0.000271442 | 2013 | PRRC2A;MIR6832 | 6 | 31632527 | G | C |
| rs281432 | 24069166 | 3383 | ICAM1 | umls:C0007137 | BeFree | ICAM-1 rs5491 and rs281432 may be applied as factors to predict the clinical stage in OSCC patients. | 0.001357209 | 2013 | ICAM1;LOC105372272 | 19 | 10279982 | C | G |
| rs2853676 | 24681604 | 7015 | TERT | umls:C0007137 | BeFree | Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are located in regions previously associated with lung cancer, were associated with increased risk of adenocarcinoma (OR = 1.16; 95% CI = 1.10 to 1.22; P = 1.1×10(-8)) and squamous cell carcinoma (OR = 1.13; CI = 1.07 to 1.19; P = 2.5×10(-5)), respectively. | 0.025151793 | 2014 | TERT | 5 | 1288432 | T | C |
| rs2910164 | 26214637 | 406938 | MIR146A | umls:C0007137 | BeFree | Association of miR-146a rs2910164 polymorphism with squamous cell carcinoma risk: a meta-analysis. | 0.00554839 | 2015 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs3138035 | 21514686 | 6355 | CCL8 | umls:C0007137 | BeFree | Further stepwise regression analysis suggested that only rs3138035, a SNP located at 5'-flanking region of CCL8, was an independently favorable factor for the prognosis of NSCLC and the protective effect was more evident in smokers (adjusted HR=0.61, 95% CI=0.42-0.87), patients with squamous cell cancer (adjusted HR=0.58, 95% CI=0.35-0.96), patients with early stage (adjusted HR=0.32, 95% CI=0.15-0.67) and patients treated with surgical operation (adjusted HR=0.47, 95% CI=0.31-0.71). | 0.000271442 | 2011 | CCL8 | 17 | 34318930 | C | T |
| rs3138035 | 21514686 | 6355 | CCL8 | umls:C0751688 | BeFree | Further stepwise regression analysis suggested that only rs3138035, a SNP located at 5'-flanking region of CCL8, was an independently favorable factor for the prognosis of NSCLC and the protective effect was more evident in smokers (adjusted HR=0.61, 95% CI=0.42-0.87), patients with squamous cell cancer (adjusted HR=0.58, 95% CI=0.35-0.96), patients with early stage (adjusted HR=0.32, 95% CI=0.15-0.67) and patients treated with surgical operation (adjusted HR=0.47, 95% CI=0.31-0.71). | 0.000271442 | 2011 | CCL8 | 17 | 34318930 | C | T |
| rs369563538 | 17294448 | 3105 | HLA-A | umls:C0007137 | BeFree | Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of the head and neck (SCCHN) indicated that 6/13 p53 missense mutations that were detected, S149C, T150R, V157F, Y220C, Y220H and E271K, occurred within HLA-A2-restricted cytotoxic T lymphocyte (CTL)-defined p53 epitopes. | 0.003181358 | 2007 | TP53;WRAP53 | 17 | 7689237 | A | T |
| rs3731239 | 23361049 | 100048912 | CDKN2B-AS1 | umls:C0007137 | BeFree | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). | 0.000542884 | 2013 | CDKN2A | 9 | 21974219 | A | G |
| rs3731239 | 23361049 | 1030 | CDKN2B | umls:C0007137 | BeFree | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). | 0.011887361 | 2013 | CDKN2A | 9 | 21974219 | A | G |
| rs386493716 | 25218703 | 7517 | XRCC3 | umls:C0007137 | BeFree | The results indicate an increased risk of squamous cell carcinoma (SCC) for the homozygous variant genotype of XRCC1 R399Q (OR 2.53, 95% CI 1.14-5.65) and a protective effect against basal cell carcinoma (BCC) for the homozygous variant genotype of XRCC3 T241M (OR 0.61, 95% CI 0.41-0.92), compared with the respective homozygous common genotypes. | 0.015373836 | 2014 | NA | NA | NA | NA | NA |
| rs386493716 | 23359058 | 7515 | XRCC1 | umls:C0007137 | BeFree | We conclude that the XRCC1 Arg399Gln polymorphism has potential as a biomarker for EC susceptibility in the Chinese population, particularly for squamous cell carcinoma. | 0.063405368 | 2014 | NA | NA | NA | NA | NA |
| rs386493716 | 25218703 | 7515 | XRCC1 | umls:C0007137 | BeFree | The results indicate an increased risk of squamous cell carcinoma (SCC) for the homozygous variant genotype of XRCC1 R399Q (OR 2.53, 95% CI 1.14-5.65) and a protective effect against basal cell carcinoma (BCC) for the homozygous variant genotype of XRCC3 T241M (OR 0.61, 95% CI 0.41-0.92), compared with the respective homozygous common genotypes. | 0.063405368 | 2014 | NA | NA | NA | NA | NA |
| rs397507444 | 16950800 | 1594 | CYP27B1 | umls:C0007137 | BeFree | We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. | 0.001085767 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 16950800 | 1045 | CDX2 | umls:C0007137 | BeFree | We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. | 0.001357209 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 16950800 | 7421 | VDR | umls:C0007137 | BeFree | We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. | 0.012649486 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs401681 | 21116649 | 25913 | POT1 | umls:C0007137 | BeFree | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls. | 0.000271442 | 2011 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 21116649 | 81037 | CLPTM1L | umls:C0007137 | BeFree | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls. | 0.005005506 | 2011 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 21116649 | 80351 | TNKS2 | umls:C0007137 | BeFree | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls. | 0.000271442 | 2011 | CLPTM1L | 5 | 1321972 | C | T |
| rs4072037 | 22805490 | 4582 | MUC1 | umls:C0007137 | BeFree | The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma. | 0.005438769 | 2012 | MUC1 | 1 | 155192276 | C | T |
| rs4072037 | 22805490 | 4582 | MUC1 | umls:C0751688 | BeFree | The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma. | 0.000814326 | 2012 | MUC1 | 1 | 155192276 | C | T |
| rs4462560 | 18594018 | 252969 | NEIL2 | umls:C0007137 | BeFree | Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G (rs4462560) and NEIL2 NT_077531.3:g.4102971C>G (rs804270) polymorphisms were determined for 872 patients with newly diagnosed squamous cell carcinomas of the oral cavity and oropharynx (SCCOOP) and 1,044 cancer-free non-Hispanic white control subjects frequency-matched by age and sex. | 0.005362824 | 2008 | MAN2C1;NEIL1;MIR631 | 15 | 75355623 | G | C |
| rs4462560 | 18594018 | 79661 | NEIL1 | umls:C0007137 | BeFree | Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G (rs4462560) and NEIL2 NT_077531.3:g.4102971C>G (rs804270) polymorphisms were determined for 872 patients with newly diagnosed squamous cell carcinomas of the oral cavity and oropharynx (SCCOOP) and 1,044 cancer-free non-Hispanic white control subjects frequency-matched by age and sex. | 0.005362824 | 2008 | MAN2C1;NEIL1;MIR631 | 15 | 75355623 | G | C |
| rs4680 | 22658813 | 1312 | COMT | umls:C0007137 | BeFree | The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 rs181696 were associated with ADC and SQC, respectively (odds ratio [OR] 0.61 and OR 2.01, respectively). | 0.000271442 | 2013 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4911414 | 19384953 | 434 | ASIP | umls:C0007137 | BeFree | The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). | 0.002638474 | 2009 | NA | 20 | 34141638 | T | G |
| rs4911414 | 19384953 | 56288 | PARD3 | umls:C0007137 | BeFree | The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). | 0.000542884 | 2009 | NA | 20 | 34141638 | T | G |
| rs4977756 | 24681604 | 7015 | TERT | umls:C0007137 | BeFree | Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are located in regions previously associated with lung cancer, were associated with increased risk of adenocarcinoma (OR = 1.16; 95% CI = 1.10 to 1.22; P = 1.1×10(-8)) and squamous cell carcinoma (OR = 1.13; CI = 1.07 to 1.19; P = 2.5×10(-5)), respectively. | 0.025151793 | 2014 | CDKN2B-AS1 | 9 | 22068653 | G | A |
| rs4986790 | 21854645 | 7099 | TLR4 | umls:C0007137 | BeFree | Toll-like receptor 4 single-nucleotide polymorphisms Asp299Gly and Thr399Ile in head and neck squamous cell carcinomas. | 0.001357209 | 2011 | TLR4 | 9 | 117713024 | A | G |
| rs4986791 | 21854645 | 7099 | TLR4 | umls:C0007137 | BeFree | Toll-like receptor 4 single-nucleotide polymorphisms Asp299Gly and Thr399Ile in head and neck squamous cell carcinomas. | 0.001357209 | 2011 | TLR4 | 9 | 117713324 | C | T |
| rs5491 | 24069166 | 3383 | ICAM1 | umls:C0007137 | BeFree | ICAM-1 rs5491 and rs281432 may be applied as factors to predict the clinical stage in OSCC patients. | 0.001357209 | 2013 | ICAM1;LOC105372272 | 19 | 10274864 | A | G,T |
| rs564398 | 23361049 | 1030 | CDKN2B | umls:C0007137 | BeFree | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). | 0.011887361 | 2013 | CDKN2B-AS1 | 9 | 22029548 | T | C |
| rs564398 | 23361049 | 100048912 | CDKN2B-AS1 | umls:C0007137 | BeFree | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). | 0.000542884 | 2013 | CDKN2B-AS1 | 9 | 22029548 | T | C |
| rs573687 | 23361049 | 1030 | CDKN2B | umls:C0007137 | BeFree | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). | 0.011887361 | 2013 | CDKN2B-AS1 | 9 | 22011643 | G | A |
| rs573687 | 23361049 | 100048912 | CDKN2B-AS1 | umls:C0007137 | BeFree | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). | 0.000542884 | 2013 | CDKN2B-AS1 | 9 | 22011643 | G | A |
| rs5854 | 24278120 | 4312 | MMP1 | umls:C0007137 | BeFree | The matrix metalloproteinase gene (MMP-1) variant, rs5854, was associated with oral SCCA; participants with even one variant allele were more likely to have oral SCCA (ORadjusted = 2.62, 95% CI 1.05-6.53) compared to people with ancestral alleles. | 0.023622831 | 2013 | MMP1;WTAPP1 | 11 | 102790143 | G | A |
| rs615552 | 23361049 | 100048912 | CDKN2B-AS1 | umls:C0007137 | BeFree | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). | 0.000542884 | 2013 | CDKN2B-AS1 | 9 | 22026078 | T | C |
| rs615552 | 23361049 | 1030 | CDKN2B | umls:C0007137 | BeFree | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). | 0.011887361 | 2013 | CDKN2B-AS1 | 9 | 22026078 | T | C |
| rs7182283 | 18594018 | 79661 | NEIL1 | umls:C0007137 | BeFree | Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G (rs4462560) and NEIL2 NT_077531.3:g.4102971C>G (rs804270) polymorphisms were determined for 872 patients with newly diagnosed squamous cell carcinomas of the oral cavity and oropharynx (SCCOOP) and 1,044 cancer-free non-Hispanic white control subjects frequency-matched by age and sex. | 0.005362824 | 2008 | NEIL1 | 15 | 75351418 | G | T |
| rs7182283 | 18594018 | 252969 | NEIL2 | umls:C0007137 | BeFree | Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G (rs4462560) and NEIL2 NT_077531.3:g.4102971C>G (rs804270) polymorphisms were determined for 872 patients with newly diagnosed squamous cell carcinomas of the oral cavity and oropharynx (SCCOOP) and 1,044 cancer-free non-Hispanic white control subjects frequency-matched by age and sex. | 0.005362824 | 2008 | NEIL1 | 15 | 75351418 | G | T |
| rs7208422 | 18224692 | 11322 | TMC6 | umls:C0007137 | BeFree | Two EV genes (EVER1 and EVER2) have been identified, and we tested the hypothesis that variation in the EVER2 gene (rs7208422) is related to seropositivity to HPV (of the genus beta types) and risk of squamous cell carcinoma in a population-based case-control study of SCC (n = 239 cases and 432 controls). | 0.000271442 | 2008 | TMC8 | 17 | 78134494 | A | C,T |
| rs7208422 | 25495765 | 147138 | TMC8 | umls:C0007137 | BeFree | Recently, it has been found that the rs7208422 (c.917A→T, p.N306l) polymorphism in the EVER2 gene is related to an increased risk of SCC in patients with conditions other than EV. | 0.003267234 | 2014 | TMC8 | 17 | 78134494 | A | C,T |
| rs74653330 | 24617981 | 4948 | OCA2 | umls:C0007137 | BeFree | Another non-synonymous variant, A481T in OCA2, was associated with the risk of squamous cell carcinoma and actinic keratosis in the Osaka group (OR, 3.16; 95% CI, 1.41-7.04; P = 0.005). | 0.002909916 | 2014 | OCA2 | 15 | 27983407 | C | T |
| rs751402 | 23211354 | 2073 | ERCC5 | umls:C0007137 | BeFree | Our results suggested that the ERCC5 rs751402 AA genotype increased the chemotherapy response in advanced NSCLC, especially in patients with squamous cell carcinoma. | 0.005905708 | 2013 | ERCC5;BIVM-ERCC5 | 13 | 102845848 | A | G |
| rs804270 | 18594018 | 252969 | NEIL2 | umls:C0007137 | BeFree | Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G (rs4462560) and NEIL2 NT_077531.3:g.4102971C>G (rs804270) polymorphisms were determined for 872 patients with newly diagnosed squamous cell carcinomas of the oral cavity and oropharynx (SCCOOP) and 1,044 cancer-free non-Hispanic white control subjects frequency-matched by age and sex. | 0.005362824 | 2008 | NEIL2 | 8 | 11770112 | G | C |
| rs804270 | 18594018 | 79661 | NEIL1 | umls:C0007137 | BeFree | Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G (rs4462560) and NEIL2 NT_077531.3:g.4102971C>G (rs804270) polymorphisms were determined for 872 patients with newly diagnosed squamous cell carcinomas of the oral cavity and oropharynx (SCCOOP) and 1,044 cancer-free non-Hispanic white control subjects frequency-matched by age and sex. | 0.005362824 | 2008 | NEIL2 | 8 | 11770112 | G | C |
| rs861539 | 25218703 | 7515 | XRCC1 | umls:C0007137 | BeFree | The results indicate an increased risk of squamous cell carcinoma (SCC) for the homozygous variant genotype of XRCC1 R399Q (OR 2.53, 95% CI 1.14-5.65) and a protective effect against basal cell carcinoma (BCC) for the homozygous variant genotype of XRCC3 T241M (OR 0.61, 95% CI 0.41-0.92), compared with the respective homozygous common genotypes. | 0.063405368 | 2014 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 19251090 | 7517 | XRCC3 | umls:C0007137 | GAD | [Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes.] | 0.015373836 | 2009 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25218703 | 7517 | XRCC3 | umls:C0007137 | BeFree | The results indicate an increased risk of squamous cell carcinoma (SCC) for the homozygous variant genotype of XRCC1 R399Q (OR 2.53, 95% CI 1.14-5.65) and a protective effect against basal cell carcinoma (BCC) for the homozygous variant genotype of XRCC3 T241M (OR 0.61, 95% CI 0.41-0.92), compared with the respective homozygous common genotypes. | 0.015373836 | 2014 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs879576 | 26241630 | 23765 | IL17RA | umls:C0007137 | BeFree | Statistically significant risks were observed for HPV16-containing SCC of the cervix with the variant allele rs879576 in IL17RA and rs2229094 in TNF [OR, 95% CI and multiple-testing corrected p: 1.91 (1.30-2.79), p=0.018 and 0.61 (0.45-0.83), p=0.02, respectively]. | 0.000271442 | 2015 | IL17RA | 22 | 17108356 | G | A |
| rs879576 | 26241630 | 7124 | TNF | umls:C0007137 | BeFree | Statistically significant risks were observed for HPV16-containing SCC of the cervix with the variant allele rs879576 in IL17RA and rs2229094 in TNF [OR, 95% CI and multiple-testing corrected p: 1.91 (1.30-2.79), p=0.018 and 0.61 (0.45-0.83), p=0.02, respectively]. | 0.02507973 | 2015 | IL17RA | 22 | 17108356 | G | A |
