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rs397507842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507842(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32329441
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507842
dbSNP (classic)rs397507842
ClinGenrs397507842
ebirs397507842
HLIrs397507842
Exacrs397507842
Gnomadrs397507842
Varsomers397507842
LitVarrs397507842
Maprs397507842
PheGenIrs397507842
Biobankrs397507842
1000 genomesrs397507842
hgdprs397507842
ensemblrs397507842
geneviewrs397507842
scholarrs397507842
googlers397507842
pharmgkbrs397507842
gwascentralrs397507842
openSNPrs397507842
23andMers397507842
SNPshotrs397507842
SNPdbers397507842
MSV3drs397507842
GWAS Ctlgrs397507842
Max Magnitude6
ClinVar
Risk rs397507842(C;C) rs397507842(G;G)
Alt rs397507842(C;C) rs397507842(G;G)
Reference Rs397507842(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Familial cancer of breast not provided Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Familial cancer of breast not provided Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32903578A>C; NC_000013.10:g.32903578A>G
CLNSRC ClinVar
CLNACC RCV000462608.1, RCV000044908.2, RCV000220032.1, RCV000258386.1,