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rs80357310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357310(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091870
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357310
ebirs80357310
HLIrs80357310
Exacrs80357310
Varsomers80357310
Maprs80357310
PheGenIrs80357310
hapmaprs80357310
1000 genomesrs80357310
hgdprs80357310
ensemblrs80357310
gopubmedrs80357310
geneviewrs80357310
scholarrs80357310
googlers80357310
pharmgkbrs80357310
gwascentralrs80357310
openSNPrs80357310
23andMers80357310
23andMe allrs80357310
SNP Nexus

SNPshotrs80357310
SNPdbers80357310
MSV3drs80357310
GWAS Ctlgrs80357310
Max Magnitude6
rs80357310, also known as E1221X, c.3661G>T and p.Glu1221Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357310(C;C)
Alt rs80357310(C;C)
Reference rs80357310(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Breast cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Breast cancer Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243887C>A
CLNSRC ClinVar University of Washington
CLNACC RCV000048276.3, RCV000112149.1, RCV000148388.1, RCV000162864.1,