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rs397507725

From SNPedia

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


Make rs397507725(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338899
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507725
dbSNP (classic)rs397507725
ClinGenrs397507725
ebirs397507725
HLIrs397507725
Exacrs397507725
Gnomadrs397507725
Varsomers397507725
LitVarrs397507725
Maprs397507725
PheGenIrs397507725
Biobankrs397507725
1000 genomesrs397507725
hgdprs397507725
ensemblrs397507725
geneviewrs397507725
scholarrs397507725
googlers397507725
pharmgkbrs397507725
gwascentralrs397507725
openSNPrs397507725
23andMers397507725
SNPshotrs397507725
SNPdbers397507725
MSV3drs397507725
GWAS Ctlgrs397507725
Max Magnitude6

aka c.4544dupA and also c.4544delA; both are considered pathogenic in ClinVar for breast cancer

ClinVar
Risk rs397507725(-;-)
Alt rs397507725(-;-)
Reference Rs397507725(A;A)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32913036delA
CLNSRC ClinVar
CLNACC RCV000044434.2,