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rs397507660

From SNPedia

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


Make rs397507660(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337590
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507660
dbSNP (classic)rs397507660
ClinGenrs397507660
ebirs397507660
HLIrs397507660
Exacrs397507660
Gnomadrs397507660
Varsomers397507660
LitVarrs397507660
Maprs397507660
PheGenIrs397507660
Biobankrs397507660
1000 genomesrs397507660
hgdprs397507660
ensemblrs397507660
geneviewrs397507660
scholarrs397507660
googlers397507660
pharmgkbrs397507660
gwascentralrs397507660
openSNPrs397507660
23andMers397507660
SNPshotrs397507660
SNPdbers397507660
MSV3drs397507660
GWAS Ctlgrs397507660
Max Magnitude6

aka both c.3235dupT and c.3235delT; both are considered pathogenic in ClinVar for breast cancer but with differing degrees of certainty

ClinVar
Risk rs397507660(-;-)
Alt rs397507660(-;-)
Reference Rs397507660(T;T)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32911727delT
CLNSRC ClinVar
CLNACC RCV000044154.2,