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rs587781566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs587781566(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32340704
GeneBRCA2
is asnp
is mentioned by
dbSNPrs587781566
dbSNP (classic)rs587781566
ClinGenrs587781566
ebirs587781566
HLIrs587781566
Exacrs587781566
Gnomadrs587781566
Varsomers587781566
LitVarrs587781566
Maprs587781566
PheGenIrs587781566
Biobankrs587781566
1000 genomesrs587781566
hgdprs587781566
ensemblrs587781566
geneviewrs587781566
scholarrs587781566
googlers587781566
pharmgkbrs587781566
gwascentralrs587781566
openSNPrs587781566
23andMers587781566
SNPshotrs587781566
SNPdbers587781566
MSV3drs587781566
GWAS Ctlgrs587781566
Max Magnitude6

aka c.6349dupT (p.Cys2117Leufs)

ClinVar
Risk rs587781566(T;T)
Alt rs587781566(T;T)
Reference Rs587781566(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914841dupT
CLNSRC
CLNACC RCV000129591.2, RCV000241514.1,