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rs80358767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358767(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339789
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358767
ebirs80358767
HLIrs80358767
Exacrs80358767
Varsomers80358767
Maprs80358767
PheGenIrs80358767
hapmaprs80358767
1000 genomesrs80358767
hgdprs80358767
ensemblrs80358767
gopubmedrs80358767
geneviewrs80358767
scholarrs80358767
googlers80358767
pharmgkbrs80358767
gwascentralrs80358767
openSNPrs80358767
23andMers80358767
23andMe allrs80358767
SNP Nexus

SNPshotrs80358767
SNPdbers80358767
MSV3drs80358767
GWAS Ctlgrs80358767
Max Magnitude6
rs80358767, also known as E1812X, c.5434G>T and p.Glu1812Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358767(T;T)
Alt rs80358767(T;T)
Reference rs80358767(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.32913926G>T
CLNSRC ClinVar
CLNACC RCV000044660.3, RCV000113430.1,