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rs80358901

From SNPedia

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


Make rs80358901(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341123
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358901
ebirs80358901
HLIrs80358901
Exacrs80358901
Varsomers80358901
Maprs80358901
PheGenIrs80358901
hapmaprs80358901
1000 genomesrs80358901
hgdprs80358901
ensemblrs80358901
gopubmedrs80358901
geneviewrs80358901
scholarrs80358901
googlers80358901
pharmgkbrs80358901
gwascentralrs80358901
openSNPrs80358901
23andMers80358901
23andMe allrs80358901
SNP Nexus

SNPshotrs80358901
SNPdbers80358901
MSV3drs80358901
GWAS Ctlgrs80358901
Max Magnitude6
rs80358901, also known as C2256X, c.6768T>A and p.Cys2256Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358901(A;A)
Alt rs80358901(A;A)
Reference rs80358901(T;T)
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.32915260T>A
CLNSRC ClinVar
CLNACC RCV000045044.2, RCV000113641.1,