Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 GeneticVariation BEFREE We evaluated the distribution of HLA-C (rs10484554, rs9264942) and ZNRD1 (rs8321) and ZNRD1-AS1 (rs3869068), single nucleotide polymorphisms (SNPs) in 266 HIV-1-infected and 223 unexposed-uninfected individuals from Northeast Brazil and their relation to HIV-1 infection, CD4 T cells count and viral load pre-treatment. 28494720

2017
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
CUI: C1519176
Disease: Salivary Gland Pleomorphic Adenoma
Salivary Gland Pleomorphic Adenoma 		0.010 GeneticVariation BEFREE The most highly associated SNP was rs10484554, which lies 34.7 kb upstream from HLA-C (P = 7.8x10(-11), GWA scan; P = 1.8x10(-30), replication; P = 1.8x10(-39), combined; U.K. PSA: P = 6.9x10(-11)). 18369459

2008
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.010 GeneticVariation BEFREE This variant is associated with low viral set point following HIV infection and its effect is independent of rs10484554. 18369459

2008
dbSNP: rs1055821
rs1055821
HLA-B
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 GeneticVariation BEFREE Using a panel of 8854 SNPs associated with AAMD at p-values ≤5.0E-7 from a cohort of >30,000 elderly people, we identified SNPs in miRNA target-encoding constituents of: (1) regulator of complement activation (RCA) genes (rs390679, CFHR1, p≤2.14E-214 ; rs12140421, CFHR3, p≤4.63E-29); (2) genes of major histocompatibility complex (MHC) loci (rs4151672, CFB, p≤8.91E-41 ; rs115404146, HLA-C, p≤6.32E-12 ; rs1055821, HLA-B, p≤1.93E-9 ; rs1063355, HLA-DQB1, p≤6.82E-14); and (3) genes of the 10q26 AAMD locus (rs1045216, PLEKHA1, p≤4.17E-142 ; rs2672603, ARMS2, p≤7.14E-46). 28343170

2017
dbSNP: rs12189871
rs12189871
HLA-B
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 GeneticVariation BEFREE Among identified psoriasis risk variants, three were more strongly associated with PsC than PsA (rs12189871 near HLA-C, p = 5.0 × 10(-19); rs4908742 near TNFRSF9, p = 0.00020; rs10888503 near LCE3A, p = 0.0014), and two were more strongly associated with PsA than PsC (rs12044149 near IL23R, p = 0.00018; rs9321623 near TNFAIP3, p = 0.00022). 26626624

2015
dbSNP: rs12189871
rs12189871
HLA-B
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 GeneticVariation BEFREE Among identified psoriasis risk variants, three were more strongly associated with PsC than PsA (rs12189871 near HLA-C, p = 5.0 × 10(-19); rs4908742 near TNFRSF9, p = 0.00020; rs10888503 near LCE3A, p = 0.0014), and two were more strongly associated with PsA than PsC (rs12044149 near IL23R, p = 0.00018; rs9321623 near TNFAIP3, p = 0.00022). 26626624

2015
dbSNP: rs12191877
rs12191877
HLA-B
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 GeneticVariation BEFREE We found that the HLA-C rs12191877 C/T polymorphism was also associated with a decreased risk of RA. 24566686

2014
dbSNP: rs12212594
rs12212594
HLA-B
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 GeneticVariation BEFREE HLA-C rs12212594 T/C, JAM2 rs2829866 A/T and REL rs702873 G/A polymorphisms were not associated with the risk of RA. 24566686

2014
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: rs139702282
rs139702282
HLA-B ; HLA-C
CUI: C1304140
Disease: Familial psoriasis
Familial psoriasis 		0.010 GeneticVariation BEFREE The c.349G>A (p.Gly117Ser) familial-psoriasis mutation was present at a frequency of 0.0005 in cases of European ancestry. 22521419

2012
dbSNP: rs17408553
rs17408553
HLA-B ; HLA-C
CUI: C0149530
Disease: Congenital heart block
Congenital heart block 		0.010 GeneticVariation BEFREE Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block. 29045069

2017
dbSNP: rs17408553
rs17408553
HLA-B ; HLA-C
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 GeneticVariation BEFREE Given the previously described association between major histocompatibility complex alleles and CHB risk, we undertook the present study to test the hypothesis that a variant form of HLA-C Asn80Lys, which binds with high affinity to an inhibitory killer cell immunoglobulin-like receptor (KIR) and thus renders natural killer (NK) cells incapable of restricting inflammation, contributes to the development of CHB. 29045069

2017
dbSNP: rs182798226
rs182798226
HLA-B ; HLA-C
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.010 GeneticVariation BEFREE Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy. 24963656

2014
dbSNP: rs182798226
rs182798226
HLA-B ; HLA-C
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE A novel p.G407C mutation in the β-MHC gene (MYH7) was identified to be responsible for familial HCM in this family. 24963656

2014
dbSNP: rs2308557
rs2308557
HLA-B ; HLA-C
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 GeneticVariation BEFREE One SNP in HLA-C (rs2308557) was significantly associated with combined response in HBeAg-positive CHB patients (P = 0.003). 26945896

2016
dbSNP: rs2523608
rs2523608
HLA-B ; MIR6891
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 GeneticVariation BEFREE After stratification, hyperlipidemia remained a risk factor in women (OR = 4.735, 95% CI: 3.375⁻6.643) and men (OR = 3.640, 95% CI: 2.916⁻4.544) with rs2523608 GG genotype. 30934611

2019
dbSNP: rs2596487
rs2596487
HLA-B ; MIR6891
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		0.010 GeneticVariation BEFREE Two SNPs, rs2596487 (OR = 4.196, 95% CI = 2.086-8.441, P = 2.08 × 10<sup>-5</sup>) and rs2228391 (OR = 3.621, 95% CI = 1.596-8.217, P = 1.2 × 10<sup>-3</sup>), were independently associated with ATD-induced agranulocytosis. 28931918

2017
dbSNP: rs281860348
rs281860348
HLA-B ; HLA-C
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 GeneticVariation BEFREE Six (preC-W28*, C-P5H/L/T, C-E83D, C-I97F/L, C-L100I and C-Q182K/*) and seven types (preC-W28*, preC-G29D, C-D32N/H, C-E43K, C-P50A/H/Y, C-A131G/N/P and C-S181H/P) of mutations in the preC/C region were found to be related to HCC and to affect the HBeAg serostatus, respectively. 23071796

2012
dbSNP: rs281860350
rs281860350
HLA-B ; HLA-C
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 GeneticVariation BEFREE There was a significant trend for association with CSTA c.162T>C and psoriasis (odds ratio (OR)=3.45, P<0.001). 18364739

2008
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: rs281860386
rs281860386
HLA-B ; HLA-C
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 GeneticVariation BEFREE Six (preC-W28*, C-P5H/L/T, C-E83D, C-I97F/L, C-L100I and C-Q182K/*) and seven types (preC-W28*, preC-G29D, C-D32N/H, C-E43K, C-P50A/H/Y, C-A131G/N/P and C-S181H/P) of mutations in the preC/C region were found to be related to HCC and to affect the HBeAg serostatus, respectively. 23071796

2012
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