Rs3095870

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is asnp
is mentioned by
dbSNPrs3095870
hapmaprs3095870
hgdprs3095870
ensemblrs3095870
gopubmedrs3095870
scholarrs3095870
googlers3095870
pharmgkbrs3095870
hgvbaseg2prs3095870
medrefsnprs3095870
23andMers3095870
SNP Nexus

Chromosome5
Orientationminus
Position172596059
GenotypeEffect
rs3095870(A;A)normal risk
rs3095870(A;G)1.7x increased risk for SLE (lupus)
rs3095870(G;G)1.7x increased risk for SLE (lupus)


Genotypes Magnitude Summary
Rs3095870(A;A) normal risk
Rs3095870(A;G) 1.7x increased risk for SLE (lupus)
Rs3095870(G;G) 00 1.7x increased risk for SLE (lupus)
rs3095870 is a SNP in the promoter region of the NKX2.5 gene; it is also known as -1192C>T.

rs3095870 has been linked to increased risk for systemic lupus erythematosus (SLE) in two independent Japanese case-control samples (p=0.0037 with odds ratio of 1.74, CI:1.19-2.55). Individuals with risk genotypes of both rs3748079 and rs3095870, in the ITPR3 and NKX2.5 genes, respectively, have even high risk for SLE (odds ratio 5.77, CI: 3.17-10.1).[PMID 18219441]

Note that the orientation of this SNP as published is reversed compared to the dbSNP entry.

? (A;A) (A;G) (G;G)
Related to SYSTEMIC LUPUS ERYTHEMATOSUS; SLE according to omim 152700. See also
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