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rs80356903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356903(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091813
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356903
ebirs80356903
HLIrs80356903
Exacrs80356903
Varsomers80356903
Maprs80356903
PheGenIrs80356903
hapmaprs80356903
1000 genomesrs80356903
hgdprs80356903
ensemblrs80356903
gopubmedrs80356903
geneviewrs80356903
scholarrs80356903
googlers80356903
pharmgkbrs80356903
gwascentralrs80356903
openSNPrs80356903
23andMers80356903
23andMe allrs80356903
SNP Nexus

SNPshotrs80356903
SNPdbers80356903
MSV3drs80356903
GWAS Ctlgrs80356903
Max Magnitude6
rs80356903, also known as Q1240X, c.3718C>T and p.Gln1240Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356903(T;T)
Alt rs80356903(T;T)
Reference rs80356903(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243830G>A
CLNSRC ClinVar
CLNACC RCV000048301.4, RCV000077554.4, RCV000162866.1,