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rs12191877
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HLA-C
Tag for *06:02
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Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, det...
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Psoriasis & Spondyloarthropathy
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Established
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rs1154155
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TRA
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T-cell receptor alpha locus variant associated with narcolepsy susceptibility...
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Hormones & Sleep
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Strong
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rs17482078
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ERAP1
R725Q
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Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces...
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Psoriasis & Spondyloarthropathy
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Strong
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rs2187668
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HLA-DQA1
DQ2.5 tag
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Tag SNP for HLA-DQ2.5 haplotype, the strongest genetic risk factor for celiac...
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Interferon Signaling & Systemic Autoimmune
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Established
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rs3077
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HLA-DPA1
HLA-DPA1 3′ UTR variant
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Regulatory variant in the 3′ UTR of HLA-DPA1 that controls surface expression...
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Interferon Signaling & Systemic Autoimmune
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Strong
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rs419788
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SKIV2L
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Intronic SKIV2L variant in the MHC class III region; the T allele tags an ind...
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Interferon Signaling & Systemic Autoimmune
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Moderate
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rs3129878
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HLA-DRA
HLA-DRA Variant
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Intronic variant in the HLA class II region associated with nonobstructive az...
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Endometriosis & Uterine Health
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Strong
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rs660895
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HLA-DRB1
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Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04...
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Interferon Signaling & Systemic Autoimmune
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Strong
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rs6910071
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TSBP1
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MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G all...
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Interferon Signaling & Systemic Autoimmune
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Strong
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rs4349859
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HLA-B
HLA-B27 proxy
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Intronic tag SNP located 41 kb centromeric of HLA-B and 5.4 kb telomeric of M...
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Psoriasis & Spondyloarthropathy
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Established
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rs4406273
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HLA-C
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Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris...
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Psoriasis & Spondyloarthropathy
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Strong
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rs498422
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LOC101929163
LOC101929163 Variant
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Intronic variant in TSBP1-AS1 (LOC101929163), a non-coding antisense RNA in t...
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Endometriosis & Uterine Health
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Emerging
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rs7770370
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HLA-DPB1
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Intronic tag SNP in HLA-DPB1 (and upstream of HLA-DPA1) that marks the HLA-DP...
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Interferon Signaling & Systemic Autoimmune
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Strong
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rs9268839
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HLA-DRA
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Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS sign...
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Interferon Signaling & Systemic Autoimmune
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Strong
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rs9277535
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HLA-DPB1
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3' UTR eQTL that reduces HLA-DPB1 expression, impairing antigen presentation ...
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Interferon Signaling & Systemic Autoimmune
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Strong
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rs17612852
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HLA-DQA1
HLA-DQA1 Peanut Allergy Tag SNP
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Intronic tag SNP in HLA-DQA1 in strong LD with HLA-DQA1*01:02; the G allele i...
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Allergy & Atopic Disease
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Strong
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rs2040410
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HLA-DQA1
HLA-DQ Autoimmune Tag SNP
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Intronic tag SNP near HLA-DQA1 that marks the DR3 (DRB1*0301-DQA1*0501-DQB1*0...
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Allergy & Atopic Disease
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Strong
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rs3129934
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HLA-DRB5
DR15 haplotype tag
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Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically n...
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Neurology & Cognition
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Strong
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rs3135388
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HLA-DRA
Tag for DRB1*15:01
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Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest g...
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Neurology & Cognition
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Established
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rs7192
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HLA-DRA
HLA-DRA Leu242Val
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Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HL...
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Allergy & Atopic Disease
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Strong
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rs9275596
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HLA-DQ
HLA-DQ Region Peanut Allergy Locus
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Intergenic tag SNP between HLA-DQB1 and HLA-DQA2 tagging the HLA-DQA1*01:02 r...
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Allergy & Atopic Disease
|
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Strong
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rs9271366
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HLA-DQA1
eQTL
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Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB1*15:01/DQA1*0...
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Neurology & Cognition
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Established
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rs9275328
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HLA-DQB1
DQB1 region
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Intergenic SNP between HLA-DQB1 and HLA-DQA2 that tags the DQB1*06:02 allele,...
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Neurology & Cognition
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Strong
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