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rs397507748

From SNPedia

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


Make rs397507748(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339249
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507748
dbSNP (classic)rs397507748
ClinGenrs397507748
ebirs397507748
HLIrs397507748
Exacrs397507748
Gnomadrs397507748
Varsomers397507748
LitVarrs397507748
Maprs397507748
PheGenIrs397507748
Biobankrs397507748
1000 genomesrs397507748
hgdprs397507748
ensemblrs397507748
geneviewrs397507748
scholarrs397507748
googlers397507748
pharmgkbrs397507748
gwascentralrs397507748
openSNPrs397507748
23andMers397507748
SNPshotrs397507748
SNPdbers397507748
MSV3drs397507748
GWAS Ctlgrs397507748
Max Magnitude6
ClinVar
Risk rs397507748(-;-)
Alt rs397507748(-;-)
Reference Rs397507748(AG;AG)
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.32913386_32913387delAG
CLNSRC ClinVar
CLNACC RCV000044515.2, RCV000257591.2,