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rs397507331

From SNPedia

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


Make rs397507331(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338760
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507331
dbSNP (classic)rs397507331
ClinGenrs397507331
ebirs397507331
HLIrs397507331
Exacrs397507331
Gnomadrs397507331
Varsomers397507331
LitVarrs397507331
Maprs397507331
PheGenIrs397507331
Biobankrs397507331
1000 genomesrs397507331
hgdprs397507331
ensemblrs397507331
geneviewrs397507331
scholarrs397507331
googlers397507331
pharmgkbrs397507331
gwascentralrs397507331
openSNPrs397507331
23andMers397507331
SNPshotrs397507331
SNPdbers397507331
MSV3drs397507331
GWAS Ctlgrs397507331
Max Magnitude6
ClinVar
Risk rs397507331(-;-)
Alt rs397507331(-;-)
Reference Rs397507331(TGACA;TGACA)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32912897_32912901delGACAT
CLNSRC ClinVar
CLNACC RCV000031480.8, RCV000160289.2, RCV000257920.2,