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rs397507739

From SNPedia

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


Make rs397507739(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326144
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507739
dbSNP (classic)rs397507739
ClinGenrs397507739
ebirs397507739
HLIrs397507739
Exacrs397507739
Gnomadrs397507739
Varsomers397507739
LitVarrs397507739
Maprs397507739
PheGenIrs397507739
Biobankrs397507739
1000 genomesrs397507739
hgdprs397507739
ensemblrs397507739
geneviewrs397507739
scholarrs397507739
googlers397507739
pharmgkbrs397507739
gwascentralrs397507739
openSNPrs397507739
23andMers397507739
SNPshotrs397507739
SNPdbers397507739
MSV3drs397507739
GWAS Ctlgrs397507739
Max Magnitude6

aka c.469_470delAA (p.Lys157Valfs)

23andMe name: i5009244

ClinVar
Risk rs397507739(-;-)
Alt rs397507739(-;-)
Reference Rs397507739(AA;AA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32900281_32900282delAA
CLNSRC ClinVar
CLNACC RCV000044472.2, RCV000077335.4,