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rs80357279

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357279(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094132
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357279
ebirs80357279
HLIrs80357279
Exacrs80357279
Varsomers80357279
Maprs80357279
PheGenIrs80357279
hapmaprs80357279
1000 genomesrs80357279
hgdprs80357279
ensemblrs80357279
gopubmedrs80357279
geneviewrs80357279
scholarrs80357279
googlers80357279
pharmgkbrs80357279
gwascentralrs80357279
openSNPrs80357279
23andMers80357279
23andMe allrs80357279
SNP Nexus

SNPshotrs80357279
SNPdbers80357279
MSV3drs80357279
GWAS Ctlgrs80357279
Max Magnitude6
rs80357279, also known as K467X, c.1399A>T and p.Lys467Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357279(C,T;C,T)
Alt rs80357279(C,T;C,T)
Reference rs80357279(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.41246149T>A
CLNSRC ClinVar
CLNACC RCV000047463.2, RCV000111608.1,