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rs80357381

From SNPedia

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


Make rs80357381(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093128
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357381
ebirs80357381
HLIrs80357381
Exacrs80357381
Varsomers80357381
Maprs80357381
PheGenIrs80357381
hapmaprs80357381
1000 genomesrs80357381
hgdprs80357381
ensemblrs80357381
gopubmedrs80357381
geneviewrs80357381
scholarrs80357381
googlers80357381
pharmgkbrs80357381
gwascentralrs80357381
openSNPrs80357381
23andMers80357381
23andMe allrs80357381
SNP Nexus

SNPshotrs80357381
SNPdbers80357381
MSV3drs80357381
GWAS Ctlgrs80357381
Max Magnitude6
rs80357381, also known as C801X, c.2403T>A and p.Cys801Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357381(A,G;A,G)
Alt rs80357381(A,G;A,G)
Reference rs80357381(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245145A>T
CLNSRC ClinVar
CLNACC RCV000047825.2, RCV000083183.3,