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rs80357367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357367(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057090
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357367
ebirs80357367
HLIrs80357367
Exacrs80357367
Varsomers80357367
Maprs80357367
PheGenIrs80357367
hapmaprs80357367
1000 genomesrs80357367
hgdprs80357367
ensemblrs80357367
gopubmedrs80357367
geneviewrs80357367
scholarrs80357367
googlers80357367
pharmgkbrs80357367
gwascentralrs80357367
openSNPrs80357367
23andMers80357367
23andMe allrs80357367
SNP Nexus

SNPshotrs80357367
SNPdbers80357367
MSV3drs80357367
GWAS Ctlgrs80357367
Max Magnitude6
rs80357367, also known as Q1747X, c.5239C>T and p.Gln1747Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357367(T;T)
Alt rs80357367(T;T)
Reference rs80357367(C;C)
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.41209107G>A
CLNSRC ClinVar
CLNACC RCV000048875.2, RCV000112575.1,