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rs80359709

From SNPedia

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


Make rs80359709(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370465
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359709
ebirs80359709
HLIrs80359709
Exacrs80359709
Varsomers80359709
Maprs80359709
PheGenIrs80359709
hapmaprs80359709
1000 genomesrs80359709
hgdprs80359709
ensemblrs80359709
gopubmedrs80359709
geneviewrs80359709
scholarrs80359709
googlers80359709
pharmgkbrs80359709
gwascentralrs80359709
openSNPrs80359709
23andMers80359709
23andMe allrs80359709
SNP Nexus

SNPshotrs80359709
SNPdbers80359709
MSV3drs80359709
GWAS Ctlgrs80359709
Max Magnitude6
rs80359709, also known as 8623delA, c.8395_8395delA and p.Arg2799Aspfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359709(;)
Alt rs80359709(;)
Reference rs80359709(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32944602delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045505.2, RCV000113925.1,