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rs2230782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 0.45x reduced risk for breast cancer
(C;G) 0
(G;G) 0 common on affy axiom data
ReferenceGRCh38 38.1/141
Chromosome20
Position47636144
GeneNCOA3
is asnp
is mentioned by
dbSNPrs2230782
ebirs2230782
HLIrs2230782
Exacrs2230782
Varsomers2230782
Maprs2230782
PheGenIrs2230782
hapmaprs2230782
1000 genomesrs2230782
hgdprs2230782
ensemblrs2230782
gopubmedrs2230782
geneviewrs2230782
scholarrs2230782
googlers2230782
pharmgkbrs2230782
gwascentralrs2230782
openSNPrs2230782
23andMers2230782
23andMe allrs2230782
SNP Nexus

SNPshotrs2230782
SNPdbers2230782
MSV3drs2230782
GWAS Ctlgrs2230782
GMAF0.05785
Max Magnitude2
? (C;C) (C;G) (G;G) 28
rs2230782, also known as Q586H, is a SNP in the nuclear receptor coactivator 3 NCOA3 gene; this gene is also known as SRC-3 or AIB1.

A study of 1,218 familial BRCA1/2-mutation negative breast cancer cases and 1,509 matched controls strengthened a (previously reported) protective effect of rs2230782. The reported odds ratio for rs2230782(C;C) homozygotes is 0.45 (CI: 0.21-0.98).[PMID 20003447OA-icon.png]


[PMID 19470168OA-icon.png] NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.


[PMID 20180986OA-icon.png] CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.


GET Evidence
NCOA3-Q586H
aa_change Gln586His
aa_change_short Q586H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0686001
summary