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rs80359712

From SNPedia

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


Make rs80359712(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370969
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359712
ebirs80359712
HLIrs80359712
Exacrs80359712
Varsomers80359712
Maprs80359712
PheGenIrs80359712
hapmaprs80359712
1000 genomesrs80359712
hgdprs80359712
ensemblrs80359712
gopubmedrs80359712
geneviewrs80359712
scholarrs80359712
googlers80359712
pharmgkbrs80359712
gwascentralrs80359712
openSNPrs80359712
23andMers80359712
23andMe allrs80359712
SNP Nexus

SNPshotrs80359712
SNPdbers80359712
MSV3drs80359712
GWAS Ctlgrs80359712
Max Magnitude6
rs80359712, also known as 8729delC, c.8501_8501delC and p.Thr2834Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359712(;)
Alt rs80359712(;)
Reference rs80359712(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32945106delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031749.4, RCV000045539.2,