Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357449

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357449(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093238
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357449
ebirs80357449
HLIrs80357449
Exacrs80357449
Varsomers80357449
Maprs80357449
PheGenIrs80357449
hapmaprs80357449
1000 genomesrs80357449
hgdprs80357449
ensemblrs80357449
gopubmedrs80357449
geneviewrs80357449
scholarrs80357449
googlers80357449
pharmgkbrs80357449
gwascentralrs80357449
openSNPrs80357449
23andMers80357449
23andMe allrs80357449
SNP Nexus

SNPshotrs80357449
SNPdbers80357449
MSV3drs80357449
GWAS Ctlgrs80357449
Max Magnitude6
rs80357449, also known as E765X, c.2293G>T and p.Glu765Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357449(T;T)
Alt rs80357449(T;T)
Reference rs80357449(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245255C>A
CLNSRC ClinVar
CLNACC RCV000047785.2, RCV000111818.1, RCV000162853.1,