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rs80357133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357133(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099817
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357133
ebirs80357133
HLIrs80357133
Exacrs80357133
Varsomers80357133
Maprs80357133
PheGenIrs80357133
hapmaprs80357133
1000 genomesrs80357133
hgdprs80357133
ensemblrs80357133
gopubmedrs80357133
geneviewrs80357133
scholarrs80357133
googlers80357133
pharmgkbrs80357133
gwascentralrs80357133
openSNPrs80357133
23andMers80357133
23andMe allrs80357133
SNP Nexus

SNPshotrs80357133
SNPdbers80357133
MSV3drs80357133
GWAS Ctlgrs80357133
Max Magnitude6
rs80357133, also known as Q169X, c.505C>T and p.Gln169Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357133(T;T)
Alt rs80357133(T;T)
Reference rs80357133(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41251834G>A
CLNSRC ClinVar
CLNACC RCV000048752.3, RCV000112722.1,