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rs169547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 1 Benign variant
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome13
Position32355250
GeneBRCA2
is asnp
is mentioned by
dbSNPrs169547
dbSNP (old)rs169547
ClinGenrs169547
ebirs169547
HLIrs169547
Exacrs169547
Gnomadrs169547
Varsomers169547
LitVarrs169547
Maprs169547
PheGenIrs169547
Biobankrs169547
1000 genomesrs169547
hgdprs169547
ensemblrs169547
gopubmedrs169547
geneviewrs169547
scholarrs169547
googlers169547
pharmgkbrs169547
gwascentralrs169547
openSNPrs169547
23andMers169547
23andMe allrs169547
SNPshotrs169547
SNPdbers169547
MSV3drs169547
GWAS Ctlgrs169547
GMAF0.0225
Max Magnitude1

aka c.7397C>T (p.Ala2466Val); a benign BRCA2 variant

23andMe name: i5009334

? (A;A) (A;G) (G;G) 28



ClinVar
Risk Rs169547(G;G)
Alt Rs169547(G;G)
Reference Rs169547(A;A)
Significance Non-pathogenic
Disease Breast-ovarian cancer not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Ductal breast carcinoma
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Ductal breast carcinoma
Reversed 1
HGVS NC_000013.10:g.32929387T\x3d; NC_000013.10:g.32929387T>C
CLNSRC HGMD
CLNACC RCV000113751.2, RCV000168597.1, RCV000203672.2, RCV000476057.1, RCV000120357.6, RCV000207137.1,