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rs397507950

From SNPedia

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


Make rs397507950(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363182
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507950
dbSNP (classic)rs397507950
ClinGenrs397507950
ebirs397507950
HLIrs397507950
Exacrs397507950
Gnomadrs397507950
Varsomers397507950
LitVarrs397507950
Maprs397507950
PheGenIrs397507950
Biobankrs397507950
1000 genomesrs397507950
hgdprs397507950
ensemblrs397507950
geneviewrs397507950
scholarrs397507950
googlers397507950
pharmgkbrs397507950
gwascentralrs397507950
openSNPrs397507950
23andMers397507950
SNPshotrs397507950
SNPdbers397507950
MSV3drs397507950
GWAS Ctlgrs397507950
Max Magnitude6
ClinVar
Risk rs397507950(-;-)
Alt rs397507950(-;-)
Reference Rs397507950(GATAT;GATAT)
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.32937319_32937323delTGATA
CLNSRC ClinVar
CLNACC RCV000045373.2, RCV000257415.2,