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rs10063949
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SLC23A1
SLC23A1 variant
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Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...
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Vitamins & Nutrient Absorption
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Moderate
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rs104895444
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NOD2
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Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; c...
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IBD & Mucosal Immunity
|
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Moderate
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rs1050152
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SLC22A4
OCTN1 L503F
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Missense variant in SLC22A4 encoding the organic cation/ergothioneine transpo...
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Allergy & Atopic Disease
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Strong
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rs121434290
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SLC39A4
SLC39A4 p.Asn106Lys
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Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygo...
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Iron & Mineral Transport
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Established
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rs1049742
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AOC1
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Missense variant in the diamine oxidase enzyme that contributes to reduced hi...
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Methylation & Detox
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Moderate
|
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rs11362
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DEFB1
G-20A
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5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide...
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IBD & Mucosal Immunity
|
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Moderate
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rs1799724
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TNF
-857C>T
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TNF promoter variant that disrupts an OCT-1 binding site, altering TNF-alpha ...
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TNF, NF-kB & Inflammatory Cytokines
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Moderate
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rs145946881
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MCM6
-14010G>C
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African lactase persistence variant — MCM6 enhancer SNP that controls LCT exp...
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Vitamins & Nutrient Absorption
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Strong
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rs3024491
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IL10
Intronic variant
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Intronic IL10 variant that reduces anti-inflammatory cytokine production, ind...
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Interferon Signaling & Systemic Autoimmune
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Moderate
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rs3024505
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IL10
3' downstream variant
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Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing...
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Interferon Signaling & Systemic Autoimmune
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Strong
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rs2976388
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PSCA
PSCA bladder urothelial variant
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Intronic PSCA variant that tags a regulatory region active in bladder urothel...
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Innate Immunity & Infection Defense
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Strong
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rs2631367
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SLC22A5
OCTN2 -207C>G
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Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expres...
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IBD & Mucosal Immunity
|
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Strong
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rs4562997
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SMAD3
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Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector si...
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IBD & Mucosal Immunity
|
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Moderate
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rs41380347
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MCM6
G-13915T
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East African lactase persistence allele — MCM6 enhancer SNP that independentl...
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Vitamins & Nutrient Absorption
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Strong
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rs17293632
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SMAD3
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Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling ...
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Allergy & Atopic Disease
|
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Strong
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rs6908425
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CDKAL1
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Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele i...
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IBD & Mucosal Immunity
|
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Strong
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rs6974491
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ELMO1
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Intronic ELMO1 variant acting as an eQTL that modulates engulfment and cell m...
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IBD & Mucosal Immunity
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Moderate
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rs2291725
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GIP
Ser103Gly
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Missense variant in the GIP incretin hormone that changes its bioactivity and...
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Hormones & Sleep
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Moderate
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rs7061710
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FMO3
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Intronic FMO3 variant associated with reduced hepatic oxidation of garlic-der...
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Vitamins & Nutrient Absorption
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Moderate
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