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rs869320781

From SNPedia

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


Make rs869320781(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position32332807
GeneBRCA2
is asnp
is mentioned by
dbSNPrs869320781
dbSNP (classic)rs869320781
ClinGenrs869320781
ebirs869320781
HLIrs869320781
Exacrs869320781
Gnomadrs869320781
Varsomers869320781
LitVarrs869320781
Maprs869320781
PheGenIrs869320781
Biobankrs869320781
1000 genomesrs869320781
hgdprs869320781
ensemblrs869320781
geneviewrs869320781
scholarrs869320781
googlers869320781
pharmgkbrs869320781
gwascentralrs869320781
openSNPrs869320781
23andMers869320781
SNPshotrs869320781
SNPdbers869320781
MSV3drs869320781
GWAS Ctlgrs869320781
Max Magnitude6

aka c.1329delG (p.Asn444fs)


ClinVar
Risk rs869320781(-;-)
Alt rs869320781(-;-)
Reference Rs869320781(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32906944delG
CLNSRC
CLNACC RCV000211012.1,