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rs3095870

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) normal risk
(A;G) 1.7x increased risk for SLE (lupus)
(G;G) 0 1.7x increased risk for SLE (lupus)
ReferenceGRCh38 38.1/141
Chromosome5
Position173236451
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs3095870
ebirs3095870
HLIrs3095870
Exacrs3095870
Varsomers3095870
Maprs3095870
PheGenIrs3095870
hapmaprs3095870
1000 genomesrs3095870
hgdprs3095870
ensemblrs3095870
gopubmedrs3095870
geneviewrs3095870
scholarrs3095870
googlers3095870
pharmgkbrs3095870
gwascentralrs3095870
openSNPrs3095870
23andMers3095870
23andMe allrs3095870
SNP Nexus

SNPshotrs3095870
SNPdbers3095870
MSV3drs3095870
GWAS Ctlgrs3095870
GMAF0.2328
Max Magnitude0
? (A;A) (A;G) (G;G) 28
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.

OMIM152700
DescSYSTEMIC LUPUS ERYTHEMATOSUS; SLE
Variant
Relatedalso