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rs80358778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358778(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339924
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358778
ebirs80358778
HLIrs80358778
Exacrs80358778
Varsomers80358778
Maprs80358778
PheGenIrs80358778
hapmaprs80358778
1000 genomesrs80358778
hgdprs80358778
ensemblrs80358778
gopubmedrs80358778
geneviewrs80358778
scholarrs80358778
googlers80358778
pharmgkbrs80358778
gwascentralrs80358778
openSNPrs80358778
23andMers80358778
23andMe allrs80358778
SNP Nexus

SNPshotrs80358778
SNPdbers80358778
MSV3drs80358778
GWAS Ctlgrs80358778
Max Magnitude6
rs80358778, also known as E1857X, c.5569G>T and p.Glu1857Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358778(T;T)
Alt rs80358778(T;T)
Reference rs80358778(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.32914061G>T
CLNSRC ClinVar
CLNACC RCV000044682.2, RCV000113444.1,