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rs1048990
|
PSMA6
PSMA6 -8C>G
|
5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven...
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Innate Immunity & Infection Defense
|
|
Moderate
|
|
rs1143627
|
IL1B
-31T>C
|
Promoter variant that elevates IL-1β transcription, increasing risk of H. pyl...
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TNF, NF-kB & Inflammatory Cytokines
|
|
Strong
|
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rs12191877
|
HLA-C
Tag for *06:02
|
Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, det...
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Psoriasis & Spondyloarthropathy
|
|
Established
|
|
rs2187668
|
HLA-DQA1
DQ2.5 tag
|
Tag SNP for HLA-DQ2.5 haplotype, the strongest genetic risk factor for celiac...
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Interferon Signaling & Systemic Autoimmune
|
|
Established
|
|
rs28929454
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SERPINA1
|
SERPINA1 intronic variant strongly associated with elevated mortality in ANCA...
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B-Cell Immunity & Antibody-Mediated Disease
|
|
Emerging
|
|
rs2364480
|
LTBR
|
Synonymous coding variant in the lymphotoxin-beta receptor gene associated wi...
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Psoriasis & Spondyloarthropathy
|
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Moderate
|
|
rs34557412
|
TNFRSF13B
TACI C104R
|
Missense variant in the TACI receptor's cysteine-rich ligand-binding domain t...
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B-Cell Immunity & Antibody-Mediated Disease
|
|
Strong
|
|
rs7514229
|
TNFSF4
TNFSF4 OX40 ligand variant
|
Intronic variant in TNFSF4 that tags an upstream regulatory haplotype associa...
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Interferon Signaling & Systemic Autoimmune
|
|
Moderate
|
|
rs3790565
|
IL12RB2
|
Intronic IL12RB2 variant associated with IL-12 signaling pathway variation an...
|
IBD & Mucosal Immunity
|
|
Moderate
|
|
rs3850641
|
TNFSF4
TNFSF4 (OX40L) Intron 1 Variant
|
Intronic variant in TNFSF4 (OX40 ligand) linked to a promoter haplotype that ...
|
Coronary Artery Disease & Atherosclerosis
|
|
Moderate
|
|
rs72634030
|
RABEP1
|
Intronic RABEP1 variant associated with rheumatoid arthritis risk, acting thr...
|
Autoimmune Tolerance & T-Cell Regulation
|
|
Emerging
|
|
rs7530511
|
IL23R
Leu310Pro
|
Missense variant in the IL-23 receptor that substitutes leucine for proline a...
|
IBD & Mucosal Immunity
|
|
Moderate
|
|
rs2523506
|
DDX39B
|
Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ...
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Neurology & Cognition
|
|
Strong
|
|
rs3129934
|
HLA-DRB5
DR15 haplotype tag
|
Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically n...
|
Neurology & Cognition
|
|
Strong
|
|
rs3135388
|
HLA-DRA
Tag for DRB1*15:01
|
Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest g...
|
Neurology & Cognition
|
|
Established
|
|
rs76428106
|
FLT3
FLT3 Intronic Splice Variant
|
Low-frequency intronic variant in FLT3 that creates a cryptic splice site, tr...
|
Hormones & Sleep
|
|
Strong
|
|
rs4794067
|
TBX21
TBX21 T-bet Promoter -1993T>C
|
Promoter variant ~1993 bp upstream of TBX21 (encoding the T-bet master transc...
|
Allergy & Atopic Disease
|
|
Moderate
|
|
rs9271366
|
HLA-DQA1
eQTL
|
Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB1*15:01/DQA1*0...
|
Neurology & Cognition
|
|
Established
|
|
rs9275328
|
HLA-DQB1
DQB1 region
|
Intergenic SNP between HLA-DQB1 and HLA-DQA2 that tags the DQB1*06:02 allele,...
|
Neurology & Cognition
|
|
Strong
|