Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9264942
rs9264942
HLA-B ; LOC112267902
CUI: C4016207
Disease: HIV-1 VIREMIA, SUSCEPTIBILITY TO
HIV-1 VIREMIA, SUSCEPTIBILITY TO 		C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs45580333
rs45580333
HLA-B ; HLA-C
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene. 9241277

1997
dbSNP: rs281860563
rs281860563
HLA-B ; HLA-C
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene. 9241277

1997
dbSNP: rs281860503
rs281860503
HLA-B ; HLA-C
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene. 9241277

1997
dbSNP: rs41562916
rs41562916
HLA-B ; HLA-C
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.010 GeneticVariation BEFREE Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p. 10024915

1998
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 GeneticVariation BEFREE We failed to confirm earlier reports of increased cervical cancer susceptibility in women who harbor the p53 P72R allele. 12142377

2002
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 GeneticVariation BEFREE We failed to confirm earlier reports of increased cervical cancer susceptibility in women who harbor the p53 P72R allele. 12142377

2002
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 GeneticVariation BEFREE We failed to confirm earlier reports of increased cervical cancer susceptibility in women who harbor the p53 P72R allele. 12142377

2002
dbSNP: rs281860391
rs281860391
HLA-B ; HLA-C
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 GeneticVariation BEFREE The emerging data are quite conflicting and do not provide definitive evidence for a role of these gene variants in the pathogenesis of IHD; a possible exception is the G252A and polymorphism in the TNF-beta gene (also known as lymphotoxin-alpha) which, in a comprehensive genome-scan linkage analysis of unrelated Japanese, but not in a smaller German population, was linked to myocardial infarction. 15760675

2005
dbSNP: rs281860391
rs281860391
HLA-B ; HLA-C
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 GeneticVariation BEFREE The emerging data are quite conflicting and do not provide definitive evidence for a role of these gene variants in the pathogenesis of IHD; a possible exception is the G252A and polymorphism in the TNF-beta gene (also known as lymphotoxin-alpha) which, in a comprehensive genome-scan linkage analysis of unrelated Japanese, but not in a smaller German population, was linked to myocardial infarction. 15760675

2005
dbSNP: rs281860554
rs281860554
HLA-B ; HLA-C
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.010 GeneticVariation BEFREE We have characterized the causative factor VIII mutation, HLA alleles as well as 4 polymorphisms (-827C>T, -308G>A, -238A>G, and 670A>G) in the TNFA gene in 164 patients (124 severe, 26 moderate, and 14 mild) in 78 families with hemophilia A enrolled in the Malmö International Brother Study (MIBS). 16926287

2006
dbSNP: rs1232620504
rs1232620504
HLA-B
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE Initially, association with T1D was seen for LT-alpha A1069G (intron A, p=0.011, rs909253) and TNF G(-308)A (p<1x10(-5), rs1800629), but no association was observed for TNF G(-238)A (rs361525). 17174749

2006
dbSNP: rs3134792
rs3134792
HLA-B
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.800 GeneticVariation GWASDB Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. 17587057

2007
dbSNP: rs9265797
rs9265797
HLA-B
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs7755852
rs7755852
HLA-B ; LOC112267902
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs6906846
rs6906846
HLA-B ; USP8P1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs6457374
rs6457374
HLA-B ; LOC112267902
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs4386816
rs4386816
HLA-B
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs3134792
rs3134792
HLA-B
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs3132486
rs3132486
HLA-B
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs3094691
rs3094691
HLA-B ; LOC112267902
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs3094682
rs3094682
HLA-B ; LINC02571 ; LOC112267902
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs2596501
rs2596501
HLA-B
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs2442719
rs2442719
HLA-B
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs2395471
rs2395471
HLA-B ; HLA-C
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007