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rs397507719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs397507719(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338795
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507719
dbSNP (classic)rs397507719
ClinGenrs397507719
ebirs397507719
HLIrs397507719
Exacrs397507719
Gnomadrs397507719
Varsomers397507719
LitVarrs397507719
Maprs397507719
PheGenIrs397507719
Biobankrs397507719
1000 genomesrs397507719
hgdprs397507719
ensemblrs397507719
geneviewrs397507719
scholarrs397507719
googlers397507719
pharmgkbrs397507719
gwascentralrs397507719
openSNPrs397507719
23andMers397507719
SNPshotrs397507719
SNPdbers397507719
MSV3drs397507719
GWAS Ctlgrs397507719
Max Magnitude6
ClinVar
Risk rs397507719(C;C) rs397507719(G;G)
Alt rs397507719(C;C) rs397507719(G;G)
Reference Rs397507719(T;T)
Significance Pathogenic
Disease not specified Familial cancer of breast not provided Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN not specified Familial cancer of breast not provided Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912932T>C; NC_000013.10:g.32912932T>G
CLNSRC ClinVar
CLNACC RCV000435177.1, RCV000044415.2, RCV000222409.1, RCV000225483.2,