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rs397507946

From SNPedia

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


Make rs397507946(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362696
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507946
dbSNP (classic)rs397507946
ClinGenrs397507946
ebirs397507946
HLIrs397507946
Exacrs397507946
Gnomadrs397507946
Varsomers397507946
LitVarrs397507946
Maprs397507946
PheGenIrs397507946
Biobankrs397507946
1000 genomesrs397507946
hgdprs397507946
ensemblrs397507946
geneviewrs397507946
scholarrs397507946
googlers397507946
pharmgkbrs397507946
gwascentralrs397507946
openSNPrs397507946
23andMers397507946
SNPshotrs397507946
SNPdbers397507946
MSV3drs397507946
GWAS Ctlgrs397507946
Max Magnitude6

aka c.7976+3_7976+4delAA

ClinVar
Risk rs397507946(-;-)
Alt rs397507946(-;-)
Reference Rs397507946(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.32936833_32936834delAA
CLNSRC ClinVar
CLNACC RCV000045365.2, RCV000258458.1,