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rs876659435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs876659435(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position32394845
GeneBRCA2
is asnp
is mentioned by
dbSNPrs876659435
dbSNP (classic)rs876659435
ClinGenrs876659435
ebirs876659435
HLIrs876659435
Exacrs876659435
Gnomadrs876659435
Varsomers876659435
LitVarrs876659435
Maprs876659435
PheGenIrs876659435
Biobankrs876659435
1000 genomesrs876659435
hgdprs876659435
ensemblrs876659435
geneviewrs876659435
scholarrs876659435
googlers876659435
pharmgkbrs876659435
gwascentralrs876659435
openSNPrs876659435
23andMers876659435
SNPshotrs876659435
SNPdbers876659435
MSV3drs876659435
GWAS Ctlgrs876659435
Max Magnitude6

aka c.9413dupT (p.Leu3138Phefs)

ClinVar
Risk rs876659435(T;T)
Alt rs876659435(T;T)
Reference Rs876659435(-;-)
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.32968982dupT
CLNSRC
CLNACC RCV000213864.1, RCV000257499.2,