Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359046

From SNPedia

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


Make rs80359046(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363269
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359046
ebirs80359046
HLIrs80359046
Exacrs80359046
Varsomers80359046
Maprs80359046
PheGenIrs80359046
hapmaprs80359046
1000 genomesrs80359046
hgdprs80359046
ensemblrs80359046
gopubmedrs80359046
geneviewrs80359046
scholarrs80359046
googlers80359046
pharmgkbrs80359046
gwascentralrs80359046
openSNPrs80359046
23andMers80359046
23andMe allrs80359046
SNP Nexus

SNPshotrs80359046
SNPdbers80359046
MSV3drs80359046
GWAS Ctlgrs80359046
Max Magnitude6
rs80359046, also known as C2689X, c.8067T>A and p.Cys2689Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359046(A;A)
Alt rs80359046(A;A)
Reference rs80359046(T;T)
Significance Other
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.32937406T>A
CLNSRC ClinVar
CLNACC RCV000045410.2, RCV000113864.3,