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rs587782611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs587782611(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32332925
GeneBRCA2
is asnp
is mentioned by
dbSNPrs587782611
dbSNP (classic)rs587782611
ClinGenrs587782611
ebirs587782611
HLIrs587782611
Exacrs587782611
Gnomadrs587782611
Varsomers587782611
LitVarrs587782611
Maprs587782611
PheGenIrs587782611
Biobankrs587782611
1000 genomesrs587782611
hgdprs587782611
ensemblrs587782611
geneviewrs587782611
scholarrs587782611
googlers587782611
pharmgkbrs587782611
gwascentralrs587782611
openSNPrs587782611
23andMers587782611
SNPshotrs587782611
SNPdbers587782611
MSV3drs587782611
GWAS Ctlgrs587782611
Max Magnitude6

aka c.1447dupG (p.Ala483Glyfs)

ClinVar
Risk rs587782611(G;G)
Alt rs587782611(G;G)
Reference Rs587782611(-;-)
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.32907062dupG
CLNSRC
CLNACC RCV000131985.2, RCV000241050.1,