Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12191877
rs12191877
HLA-B
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.830 GeneticVariation BEFREE Moreover, we replicated the association between rs12191877 (HLA-C) and type I psoriasis and between type I and type II psoriasis. 26613086

2015
dbSNP: rs12191877
rs12191877
HLA-B
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.830 GeneticVariation BEFREE The most significant finding was for SNP rs12191877, which is in tight linkage disequilibrium with HLA-Cw*0602, the consensus risk allele for psoriasis. 19680446

2009
dbSNP: rs12191877
rs12191877
HLA-B
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.830 GeneticVariation BEFREE The results of the univariate analysis showed an association between rs10484879 and psoriasis, although this relationship disappeared after adjustment for HLA-C (rs12191877). 26415694

2015
dbSNP: rs9468925
rs9468925
HLA-B
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.820 GeneticVariation BEFREE Allele G of rs9468925 on HLA-C-HLA-B may be associated with a higher risk of vitiligo. 21951294

2012
dbSNP: rs9468925
rs9468925
HLA-B
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.820 GeneticVariation BEFREE More importantly we find that rs9468925 in HLA-C/HLA-B is associated with both psoriasis and vitiligo, providing first important evidence that two major skin diseases share a common genetic locus in the MHC, and a basis for elucidating the molecular mechanism of skin disorders. 22125590

2011
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.810 GeneticVariation BEFREE We investigated, in 461 psoriatic patients and 454 healthy controls, the associations with psoriasis of four single-nucleotide polymorphisms (SNPs) from the psoriasis susceptibility 1 (PSORS1) interval: rs1062470 (PSORS1C1/CDSN), rs887466 (PSORS1C3), rs2894207 and rs10484554 (LOC105375015). 29589160

2018
dbSNP: rs5010528
rs5010528
HLA-B ; HLA-C
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.720 GeneticVariation BEFREE The most promising signal was seen in SJS/TEN, where rs5010528 ( HLA-C locus) approached genome-wide significance ( P  <   8.5 × 10 -8 ) and was below HLA -wide significance ( P  <   2.5 × 10 -4 ) in the meta-analysis of discovery and replication cohorts [OR 4.84 (95% CI 2.71-8.61)]. rs5010528 is a strong proxy for HLA-C*04:01 carriage: in silico docking showed that two residues (33 and 123) in the B pocket were the most likely nevirapine interactors. 28062682

2017
dbSNP: rs5010528
rs5010528
HLA-B ; HLA-C
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.720 GeneticVariation BEFREE Our study confirmed the association of the rs5010528 SNP in the HLA-C region with susceptibility to developing SJS/TEN in a population from Mozambique, suggesting that it could be a good genomic biomarker for SJS/TEN susceptibility in different sub-Saharan populations. 29762688

2018
dbSNP: rs2894207
rs2894207
HLA-B ; LINC02571
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.720 GeneticVariation BEFREE In this study, in southern China, where NPC is endemic, a single nucleotide polymorphism (SNP) in the EBV-encoded <i>RPMS1</i> gene (locus 155391: G > A [G155391A]) and seven host SNPs (rs1412829, rs28421666, rs2860580, rs2894207, rs31489, rs6774494, and rs9510787) were confirmed to be significantly associated with NPC risk in 50 NPC cases versus 54 hospital-based controls with throat washing specimens and 1925 NPC cases versus 1947 hospital-based controls with buffy coat samples, respectively. 29221111

2017
dbSNP: rs2894207
rs2894207
HLA-B ; LINC02571
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.720 GeneticVariation BEFREE The G allele of rs2894207 located between HLA-B and HLA-C showed protective effect of NPC development (OR = 0.52, P = 2.23 × 10<sup>-13</sup> ). 30378292

2018
dbSNP: rs114985235
rs114985235
HLA-B ; LINC02571 ; LOC112267902
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.710 GeneticVariation BEFREE Among them, rs114985235 in the intergenic region between HLA-B and HLA-C showed the strongest association, with an increased risk of CD (P = 8.71 × 10; odds ratio, 2.25). 26891255

2016
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.710 GeneticVariation BEFREE When the HLA-C rs10484554 CC homozygote genotype was used as the reference group, the TT/CT genotypes were associated with a significantly decreased risk for RA (adjusted OR = 0.72, 95% CI = 0.52-0.99, p = 0.044). 24566686

2014
dbSNP: rs9468925
rs9468925
HLA-B
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.020 GeneticVariation BEFREE Allele G of rs9468925 on HLA-C-HLA-B may be associated with a higher risk of vitiligo. 21951294

2012
dbSNP: rs9468925
rs9468925
HLA-B
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.020 GeneticVariation BEFREE More importantly we find that rs9468925 in HLA-C/HLA-B is associated with both psoriasis and vitiligo, providing first important evidence that two major skin diseases share a common genetic locus in the MHC, and a basis for elucidating the molecular mechanism of skin disorders. 22125590

2011
dbSNP: rs5010528
rs5010528
HLA-B ; HLA-C
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		0.020 GeneticVariation BEFREE The most promising signal was seen in SJS/TEN, where rs5010528 ( HLA-C locus) approached genome-wide significance ( P  <   8.5 × 10 -8 ) and was below HLA -wide significance ( P  <   2.5 × 10 -4 ) in the meta-analysis of discovery and replication cohorts [OR 4.84 (95% CI 2.71-8.61)]. rs5010528 is a strong proxy for HLA-C*04:01 carriage: in silico docking showed that two residues (33 and 123) in the B pocket were the most likely nevirapine interactors. 28062682

2017
dbSNP: rs5010528
rs5010528
HLA-B ; HLA-C
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		0.020 GeneticVariation BEFREE Our study confirmed the association of the rs5010528 SNP in the HLA-C region with susceptibility to developing SJS/TEN in a population from Mozambique, suggesting that it could be a good genomic biomarker for SJS/TEN susceptibility in different sub-Saharan populations. 29762688

2018
dbSNP: rs9468925
rs9468925
HLA-B
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 GeneticVariation BEFREE With four regression models obtained, two SNPs rs9468925 in HLA-C/HLA-B and rs2858881 in HLA-DQA2 were repeatedly selected in all models, suggesting that multiple loci outside PSOR1 locus were associated with psoriasis. 22125590

2011
dbSNP: rs9468925
rs9468925
HLA-B
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo 		0.010 GeneticVariation BEFREE To explore the association between rs9468925 polymorphism within MHC and the clinical features of generalized vitiligo. 21951294

2012
dbSNP: rs9468925
rs9468925
HLA-B
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.010 GeneticVariation BEFREE More importantly we find that rs9468925 in HLA-C/HLA-B is associated with both psoriasis and vitiligo, providing first important evidence that two major skin diseases share a common genetic locus in the MHC, and a basis for elucidating the molecular mechanism of skin disorders. 22125590

2011
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.010 GeneticVariation BEFREE Our results implied that rs9266150 might not only play an important role in the development of psoriasis, but also be positively associated with the geographic location, gender and present skin lesion in the Chinese population. 29630754

2018
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 GeneticVariation BEFREE Our results implied that rs9266150 might not only play an important role in the development of psoriasis, but also be positively associated with the geographic location, gender and present skin lesion in the Chinese population. 29630754

2018
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		0.010 GeneticVariation BEFREE To investigate the distribution and association of the rs9266150 gene with clinical phenotypes of PV in Chinese Han population, we conducted an analysis in case-control and case-only subjects in the 9906 controls and 8744 cases by MHC targeted sequencing stratified analysis in this study. 29630754

2018
dbSNP: rs9264942
rs9264942
HLA-B ; LOC112267902
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 GeneticVariation BEFREE Significant associations between the minor allele variants of SNPs HLA-C rs9264942 and HCP5 rs2395029 and a lower viral load at set point could be replicated in the ACS. 19050382

2009
dbSNP: rs9264942
rs9264942
HLA-B ; LOC112267902
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		0.010 GeneticVariation BEFREE Whether rs9264942 SNP is associated with PsV was investigated here. rs9264942T>C was genotyped in 292 PsV patients, and 254 controls using TaqMan Genotyping Assay. 24759677

2014
dbSNP: rs9264942
rs9264942
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