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rs587782361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs587782361(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32336925
GeneBRCA2
is asnp
is mentioned by
dbSNPrs587782361
dbSNP (classic)rs587782361
ClinGenrs587782361
ebirs587782361
HLIrs587782361
Exacrs587782361
Gnomadrs587782361
Varsomers587782361
LitVarrs587782361
Maprs587782361
PheGenIrs587782361
Biobankrs587782361
1000 genomesrs587782361
hgdprs587782361
ensemblrs587782361
geneviewrs587782361
scholarrs587782361
googlers587782361
pharmgkbrs587782361
gwascentralrs587782361
openSNPrs587782361
23andMers587782361
SNPshotrs587782361
SNPdbers587782361
MSV3drs587782361
GWAS Ctlgrs587782361
Max Magnitude6

aka c.2570dupT (p.Arg858Lysfs)

ClinVar
Risk rs587782361(T;T)
Alt rs587782361(T;T)
Reference Rs587782361(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32911062dupT
CLNSRC
CLNACC RCV000131317.3, RCV000241017.1, RCV000274423.1,