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rs80359711

From SNPedia

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


Make rs80359711(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370544
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359711
ebirs80359711
HLIrs80359711
Exacrs80359711
Varsomers80359711
Maprs80359711
PheGenIrs80359711
hapmaprs80359711
1000 genomesrs80359711
hgdprs80359711
ensemblrs80359711
gopubmedrs80359711
geneviewrs80359711
scholarrs80359711
googlers80359711
pharmgkbrs80359711
gwascentralrs80359711
openSNPrs80359711
23andMers80359711
23andMe allrs80359711
SNP Nexus

SNPshotrs80359711
SNPdbers80359711
MSV3drs80359711
GWAS Ctlgrs80359711
Max Magnitude6
rs80359711, also known as 8702delC, c.8474_8474delC and p.Ala2825Aspfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359711(;)
Alt rs80359711(;)
Reference rs80359711(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32944681delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045528.2, RCV000113939.1, RCV000166065.1,