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rs80358856

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358856(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340524
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358856
ebirs80358856
HLIrs80358856
Exacrs80358856
Varsomers80358856
Maprs80358856
PheGenIrs80358856
hapmaprs80358856
1000 genomesrs80358856
hgdprs80358856
ensemblrs80358856
gopubmedrs80358856
geneviewrs80358856
scholarrs80358856
googlers80358856
pharmgkbrs80358856
gwascentralrs80358856
openSNPrs80358856
23andMers80358856
23andMe allrs80358856
SNP Nexus

SNPshotrs80358856
SNPdbers80358856
MSV3drs80358856
GWAS Ctlgrs80358856
Max Magnitude6
rs80358856, also known as G2057X, c.6169G>T and p.Gly2057Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358856(T;T)
Alt rs80358856(T;T)
Reference rs80358856(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.32914661G>T
CLNSRC ClinVar
CLNACC RCV000044859.2, RCV000113540.1,