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rs397507741

From SNPedia

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


Make rs397507741(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339121
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507741
dbSNP (classic)rs397507741
ClinGenrs397507741
ebirs397507741
HLIrs397507741
Exacrs397507741
Gnomadrs397507741
Varsomers397507741
LitVarrs397507741
Maprs397507741
PheGenIrs397507741
Biobankrs397507741
1000 genomesrs397507741
hgdprs397507741
ensemblrs397507741
geneviewrs397507741
scholarrs397507741
googlers397507741
pharmgkbrs397507741
gwascentralrs397507741
openSNPrs397507741
23andMers397507741
SNPshotrs397507741
SNPdbers397507741
MSV3drs397507741
GWAS Ctlgrs397507741
Max Magnitude6

aka c.4766delC

ClinVar
Risk rs397507741(-;-)
Alt rs397507741(-;-)
Reference Rs397507741(C;C)
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.32913258delC
CLNSRC ClinVar
CLNACC RCV000044490.2, RCV000257012.2,