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rs80359731

From SNPedia

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


Make rs80359731(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379474
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359731
ebirs80359731
HLIrs80359731
Exacrs80359731
Varsomers80359731
Maprs80359731
PheGenIrs80359731
hapmaprs80359731
1000 genomesrs80359731
hgdprs80359731
ensemblrs80359731
gopubmedrs80359731
geneviewrs80359731
scholarrs80359731
googlers80359731
pharmgkbrs80359731
gwascentralrs80359731
openSNPrs80359731
23andMers80359731
23andMe allrs80359731
SNP Nexus

SNPshotrs80359731
SNPdbers80359731
MSV3drs80359731
GWAS Ctlgrs80359731
Max Magnitude6
rs80359731, also known as 9140delA, c.8912_8912delA and p.Lys2971Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359731(;)
Alt rs80359731(;)
Reference rs80359731(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.32953611delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045652.2, RCV000114013.1,