All Snps(Total Genotypes:50) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs111033603 | NA | 3040 | HBA2 | umls:C0002312 | CLINVAR | NA | 0.302656922 | NA | HBA2 | 16 | 172914 | T | C |
| rs11549407 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226774 | G | T,C,A |
| rs11886868 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | BCL11A | 2 | 60493111 | C | T |
| rs11886868 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | BCL11A | 2 | 60493111 | C | T |
| rs11886868 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | BCL11A | 2 | 60493111 | C | T |
| rs1799945 | 17160266 | 3077 | HFE | umls:C0002312 | BeFree | The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. | 0.002638474 | 2006 | HFE | 6 | 26090951 | C | G |
| rs1800562 | 17160266 | 3077 | HFE | umls:C0002312 | BeFree | The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. | 0.002638474 | 2006 | HFE | 6 | 26092913 | G | A |
| rs1800730 | 17160266 | 3077 | HFE | umls:C0002312 | BeFree | The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. | 0.002638474 | 2006 | HFE | 6 | 26090957 | A | T |
| rs2071348 | 24474642 | 7954 | HBFQTL2 | umls:C0002312 | BeFree | Relationships of Swiss-type heterocellular HPFH as functions of XmnI-(G)γ and HBBP1:rs2071348 polymorphisms and HbF, HbE, MCV and MCH in HbE carriers were evaluated in 52 non-anemic and α-thalassemia-free Thai HbE carriers. | 0.001357209 | 2014 | HBBP1 | 11 | 5242916 | T | G |
| rs2071348 | 24474642 | 3044 | HBBP1 | umls:C0002312 | BeFree | Relationships of Swiss-type heterocellular HPFH as functions of XmnI-(G)γ and HBBP1:rs2071348 polymorphisms and HbF, HbE, MCV and MCH in HbE carriers were evaluated in 52 non-anemic and α-thalassemia-free Thai HbE carriers. | 0.000271442 | 2014 | HBBP1 | 11 | 5242916 | T | G |
| rs2071348 | 24474642 | 5367 | PMCH | umls:C0002312 | BeFree | Relationships of Swiss-type heterocellular HPFH as functions of XmnI-(G)γ and HBBP1:rs2071348 polymorphisms and HbF, HbE, MCV and MCH in HbE carriers were evaluated in 52 non-anemic and α-thalassemia-free Thai HbE carriers. | 0.002442977 | 2014 | HBBP1 | 11 | 5242916 | T | G |
| rs2297339 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | HBS1L | 6 | 135054853 | G | A |
| rs2297339 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | HBS1L | 6 | 135054853 | G | A |
| rs2297339 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | HBS1L | 6 | 135054853 | G | A |
| rs281864819 | NA | 3040 | HBA2 | umls:C0002312 | CLINVAR | NA | 0.302656922 | NA | HBA2 | 16 | 172982 | G | A,C,T |
| rs281864846 | 24829075 | 3039 | HBA1 | umls:C0002312 | BeFree | A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families. | 0.332899267 | 2015 | HBA2 | 16 | 173208 | G | A,T |
| rs2838513 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | LOC105377139 | 21 | 44175491 | G | A |
| rs2838513 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | LOC105377139 | 21 | 44175491 | G | A |
| rs2838513 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | LOC105377139 | 21 | 44175491 | G | A |
| rs28928878 | 24829075 | 3039 | HBA1 | umls:C0002312 | BeFree | A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families. | 0.332899267 | 2015 | HBA1 | 16 | 177012 | G | A,T |
| rs33914668 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5225728 | T | G,C |
| rs33915217 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226925 | C | T,G,A |
| rs33931746 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5227099 | T | G,C |
| rs33944208 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5227159 | G | T,C,A |
| rs33945777 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226576 | C | T,G,A |
| rs33951465 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226947 | A | T,C |
| rs33971440 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226929 | C | T,A |
| rs33972047 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226963 | T | C |
| rs33986703 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226970 | T | G,C,A |
| rs33987053 | NA | 3040 | HBA2 | umls:C0002312 | CLINVAR | NA | 0.302656922 | NA | HBA2 | 16 | 173520 | G | A,C,T |
| rs33994806 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5227157 | G | T,C,A |
| rs34451549 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5225923 | G | A |
| rs34598529 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5227100 | T | C |
| rs34690599 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5225832 | G | C |
| rs35004220 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226820 | C | T |
| rs35497102 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226996 | TT | - |
| rs35699606 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226994 | - | C |
| rs35724775 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226924 | A | T,G |
| rs41464951 | NA | 3040 | HBA2 | umls:C0002312 | CLINVAR | NA | 0.302656922 | NA | HBA2 | 16 | 173598 | T | A,C,G |
| rs4671393 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | BCL11A | 2 | 60493816 | A | G |
| rs4671393 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | BCL11A | 2 | 60493816 | A | G |
| rs4671393 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | BCL11A | 2 | 60493816 | A | G |
| rs4895441 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | LOC105378010 | 6 | 135105435 | A | G |
| rs4895441 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | LOC105378010 | 6 | 135105435 | A | G |
| rs4895441 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | LOC105378010 | 6 | 135105435 | A | G |
| rs80356820 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226757 | G | - |
| rs80356821 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226765 | AGAA | - |
| rs9399137 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | NA | 6 | 135097880 | T | C |
| rs9399137 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | NA | 6 | 135097880 | T | C |
| rs9399137 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | NA | 6 | 135097880 | T | C |
