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rs80358754

From SNPedia

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


Make rs80358754(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339641
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358754
ebirs80358754
HLIrs80358754
Exacrs80358754
Varsomers80358754
Maprs80358754
PheGenIrs80358754
hapmaprs80358754
1000 genomesrs80358754
hgdprs80358754
ensemblrs80358754
gopubmedrs80358754
geneviewrs80358754
scholarrs80358754
googlers80358754
pharmgkbrs80358754
gwascentralrs80358754
openSNPrs80358754
23andMers80358754
23andMe allrs80358754
SNP Nexus

SNPshotrs80358754
SNPdbers80358754
MSV3drs80358754
GWAS Ctlgrs80358754
Max Magnitude6
rs80358754, also known as Y1762X, c.5286T>A and p.Tyr1762Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358754(A;A)
Alt rs80358754(A;A)
Reference rs80358754(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.32913778T>A
CLNSRC ClinVar
CLNACC RCV000044628.2, RCV000113417.2,