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rs80358455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358455(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333159
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358455
ebirs80358455
HLIrs80358455
Exacrs80358455
Varsomers80358455
Maprs80358455
PheGenIrs80358455
hapmaprs80358455
1000 genomesrs80358455
hgdprs80358455
ensemblrs80358455
gopubmedrs80358455
geneviewrs80358455
scholarrs80358455
googlers80358455
pharmgkbrs80358455
gwascentralrs80358455
openSNPrs80358455
23andMers80358455
23andMe allrs80358455
SNP Nexus

SNPshotrs80358455
SNPdbers80358455
MSV3drs80358455
GWAS Ctlgrs80358455
Max Magnitude6
rs80358455, also known as G561X, c.1681G>T and p.Gly561Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358455(T;T)
Alt rs80358455(T;T)
Reference rs80358455(G;G)
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.32907296G>T
CLNSRC ClinVar
CLNACC RCV000043862.2, RCV000112959.1,