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rs397507917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 BRCA2 variant considered pathogenic for breast cancer
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507917(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356426
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507917
dbSNP (classic)rs397507917
ClinGenrs397507917
ebirs397507917
HLIrs397507917
Exacrs397507917
Gnomadrs397507917
Varsomers397507917
LitVarrs397507917
Maprs397507917
PheGenIrs397507917
Biobankrs397507917
1000 genomesrs397507917
hgdprs397507917
ensemblrs397507917
geneviewrs397507917
scholarrs397507917
googlers397507917
pharmgkbrs397507917
gwascentralrs397507917
openSNPrs397507917
23andMers397507917
SNPshotrs397507917
SNPdbers397507917
MSV3drs397507917
GWAS Ctlgrs397507917
Max Magnitude6
ClinVar
Risk rs397507917(G;G) rs397507917(T;T)
Alt rs397507917(G;G) rs397507917(T;T)
Reference Rs397507917(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32930563A>G; NC_000013.10:g.32930563A>T
CLNSRC ClinVar
CLNACC RCV000258250.1, RCV000045214.2, RCV000258319.1,