Have questions? Visit https://www.reddit.com/r/SNPedia

rs11571747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(C;C) 2
Make rs11571747(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32371035
GeneBRCA2
is asnp
is mentioned by
dbSNPrs11571747
dbSNP (classic)rs11571747
ClinGenrs11571747
ebirs11571747
HLIrs11571747
Exacrs11571747
Gnomadrs11571747
Varsomers11571747
LitVarrs11571747
Maprs11571747
PheGenIrs11571747
Biobankrs11571747
1000 genomesrs11571747
hgdprs11571747
ensemblrs11571747
geneviewrs11571747
scholarrs11571747
googlers11571747
pharmgkbrs11571747
gwascentralrs11571747
openSNPrs11571747
23andMers11571747
SNPshotrs11571747
SNPdbers11571747
MSV3drs11571747
GWAS Ctlgrs11571747
GMAF0.0004591
Max Magnitude2
? (A;A) (A;C) (C;C) 28


This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (C).


ClinVar
Risk Rs11571747(C;C)
Alt Rs11571747(C;C)
Reference Rs11571747(A;A)
Significance Other
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast and ovarian cancer syndrome Fanconi anemia
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast and ovarian cancer syndrome Fanconi anemia
Reversed 0
HGVS NC_000013.10:g.32945172A>C
CLNSRC HGMD
CLNACC RCV000031751.8, RCV000034464.3, RCV000131022.2, RCV000152885.6, RCV000167825.7, RCV000371112.1,