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rs80357437

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs80357437(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074498
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357437
ebirs80357437
HLIrs80357437
Exacrs80357437
Varsomers80357437
Maprs80357437
PheGenIrs80357437
hapmaprs80357437
1000 genomesrs80357437
hgdprs80357437
ensemblrs80357437
gopubmedrs80357437
geneviewrs80357437
scholarrs80357437
googlers80357437
pharmgkbrs80357437
gwascentralrs80357437
openSNPrs80357437
23andMers80357437
23andMe allrs80357437
SNP Nexus

SNPshotrs80357437
SNPdbers80357437
MSV3drs80357437
GWAS Ctlgrs80357437
Max Magnitude6
rs80357437, also known as S1503X, c.4508C>A and p.Ser1503Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357437(A;A)
Alt rs80357437(A;A)
Reference rs80357437(C;C)
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.41226515G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048583.2, RCV000112351.1, RCV000129157.1,