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rs80359481

From SNPedia

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


Make rs80359481(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339428
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359481
ebirs80359481
HLIrs80359481
Exacrs80359481
Varsomers80359481
Maprs80359481
PheGenIrs80359481
hapmaprs80359481
1000 genomesrs80359481
hgdprs80359481
ensemblrs80359481
gopubmedrs80359481
geneviewrs80359481
scholarrs80359481
googlers80359481
pharmgkbrs80359481
gwascentralrs80359481
openSNPrs80359481
23andMers80359481
23andMe allrs80359481
SNP Nexus

SNPshotrs80359481
SNPdbers80359481
MSV3drs80359481
GWAS Ctlgrs80359481
Max Magnitude6
rs80359481, also known as 5301delA, c.5073_5073delA and p.Lys1691Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359481(;)
Alt rs80359481(;)
Reference rs80359481(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.32913565delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044549.3, RCV000113375.1,