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rs3748079

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) normal risk
(A;G) normal risk
(C;T) 0
(G;G) 1.9x increased risk for SLE (lupus)
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome6
Position33620370
GeneITPR3
is asnp
is mentioned by
dbSNPrs3748079
ebirs3748079
HLIrs3748079
Exacrs3748079
Varsomers3748079
Maprs3748079
PheGenIrs3748079
hapmaprs3748079
1000 genomesrs3748079
hgdprs3748079
ensemblrs3748079
gopubmedrs3748079
geneviewrs3748079
scholarrs3748079
googlers3748079
pharmgkbrs3748079
gwascentralrs3748079
openSNPrs3748079
23andMers3748079
23andMe allrs3748079
SNP Nexus

SNPshotrs3748079
SNPdbers3748079
MSV3drs3748079
GWAS Ctlgrs3748079
GMAF0.1781
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs3748079 is a SNP in the promoter region of the ITPR3 gene; it is also known as -1990C>T.

rs3748079 has been linked to increased risk for systemic lupus erythematosus (SLE) in two independent Japanese case-control samples (p=0.0000000178 with odds ratio of 1.88, CI:1.51-2.35). 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).[PMID 18219441]

This particular SNP also revealed associations with rheumatoid arthritis (RA) (p=0.0084 with odds ratio of 1.23, CI:1.05-1.43) and with Graves' disease (GD) (p=0.00036 with odds ratio of 1.57, CI:1.22-2.02).[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