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rs397507940

From SNPedia

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


Make rs397507940(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362563
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507940
dbSNP (classic)rs397507940
ClinGenrs397507940
ebirs397507940
HLIrs397507940
Exacrs397507940
Gnomadrs397507940
Varsomers397507940
LitVarrs397507940
Maprs397507940
PheGenIrs397507940
Biobankrs397507940
1000 genomesrs397507940
hgdprs397507940
ensemblrs397507940
geneviewrs397507940
scholarrs397507940
googlers397507940
pharmgkbrs397507940
gwascentralrs397507940
openSNPrs397507940
23andMers397507940
SNPshotrs397507940
SNPdbers397507940
MSV3drs397507940
GWAS Ctlgrs397507940
Max Magnitude6

aka c.7846delT (p.Ser2616Leufs)

23andMe name: i5010413

ClinVar
Risk rs397507940(-;-)
Alt rs397507940(-;-)
Reference Rs397507940(T;T)
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.32936700delT
CLNSRC ClinVar
CLNACC RCV000045328.2, RCV000162059.3,