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rs4942486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 0 benign variant
(T;T) 0 common/normal
ReferenceGRCh38 38.1/142
Chromosome13
Position32379251
GeneBRCA2
is asnp
is mentioned by
dbSNPrs4942486
ebirs4942486
HLIrs4942486
Exacrs4942486
Varsomers4942486
Maprs4942486
PheGenIrs4942486
hapmaprs4942486
1000 genomesrs4942486
hgdprs4942486
ensemblrs4942486
gopubmedrs4942486
geneviewrs4942486
scholarrs4942486
googlers4942486
pharmgkbrs4942486
gwascentralrs4942486
openSNPrs4942486
23andMers4942486
23andMe allrs4942486
SNP Nexus

SNPshotrs4942486
SNPdbers4942486
MSV3drs4942486
GWAS Ctlgrs4942486
Max Magnitude0

rs4942486, also known as c.8755-66T>C, is a variant in the BRCA2 gene classified as benign by at least two sources in ClinVar.

? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait LDL cholesterol
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele T
P-val 2E-11
Odds Ratio .02 [NR] unit increase


ClinVar
Risk rs4942486(C;C)
Alt rs4942486(C;C)
Reference rs4942486(T;T)
Significance Non-pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32953388T>C
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113994.2,