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rs80357303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357303(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071113
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357303
ebirs80357303
HLIrs80357303
Exacrs80357303
Varsomers80357303
Maprs80357303
PheGenIrs80357303
hapmaprs80357303
1000 genomesrs80357303
hgdprs80357303
ensemblrs80357303
gopubmedrs80357303
geneviewrs80357303
scholarrs80357303
googlers80357303
pharmgkbrs80357303
gwascentralrs80357303
openSNPrs80357303
23andMers80357303
23andMe allrs80357303
SNP Nexus

SNPshotrs80357303
SNPdbers80357303
MSV3drs80357303
GWAS Ctlgrs80357303
Max Magnitude6
rs80357303, also known as K1601X, c.4801A>T and p.Lys1601Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357303(C,T;C,T)
Alt rs80357303(C,T;C,T)
Reference rs80357303(A;A)
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.41223130T>A
CLNSRC ClinVar
CLNACC RCV000048662.2, RCV000077587.3,