Rs1800630

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is asnp
is mentioned by
dbSNPrs1800630
hapmaprs1800630
hgdprs1800630
ensemblrs1800630
gopubmedrs1800630
scholarrs1800630
googlers1800630
pharmgkbrs1800630
hgvbaseg2prs1800630
medrefsnprs1800630
23andMers1800630
SNP Nexus

GeneTNF
Chromosome6
Orientationplus
Position31650454
GenotypeEffect
rs1800630(A;A)1.8x increased lupus risk
rs1800630(A;C)1.8x increased lupus risk
rs1800630(C;C)normal


Genotypes Magnitude Summary
Rs1800630(A;A) 1.8x increased lupus risk
Rs1800630(A;C) 1.8x increased lupus risk
Rs1800630(C;C) 00 normal

rs1800630 is a SNP upstream of the tumor necrosis alpha (TNF) gene; this SNP is also typically called the -863 variant.

In a study of 154 Thai patients with systemic lupus erythematosus (SLE), rs1800630(A) allele frequency was significantly increased, with an odds ratio of 1.85 (CI: 1.21-2.83, p(corr) = 0.009). This allele was also found to be significantly increased in the SLE group with Raynaud's phenomenon compared to SLE without Raynaud's phenomenon ( odds ratio of 2.23, CI: 1.21-4.10, p(corr) = 0.048).[PMID 18001298]

Separately, a meta-analysis of 10 case-control studies, including over 2,200 Graves' disease cases, concluded that rs1800630(A) carriers were associated with the disease.[PMID 18472000]

? (A;A) (A;C) (C;C)
Neighborrs1799964
Distance168
Neighborrs1799724
Distance6


[PMID 20177654] Obesity-dependent association of TNF-LTA locus with type 2 diabetes in North Indians