Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357220(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093712
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357220
ebirs80357220
HLIrs80357220
Exacrs80357220
Varsomers80357220
Maprs80357220
PheGenIrs80357220
hapmaprs80357220
1000 genomesrs80357220
hgdprs80357220
ensemblrs80357220
gopubmedrs80357220
geneviewrs80357220
scholarrs80357220
googlers80357220
pharmgkbrs80357220
gwascentralrs80357220
openSNPrs80357220
23andMers80357220
23andMe allrs80357220
SNP Nexus

SNPshotrs80357220
SNPdbers80357220
MSV3drs80357220
GWAS Ctlgrs80357220
Max Magnitude6
rs80357220, also known as K607X, c.1819A>T and p.Lys607Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357220(G,T;G,T)
Alt rs80357220(G,T;G,T)
Reference rs80357220(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.41245729T>A
CLNSRC ClinVar
CLNACC RCV000047594.2, RCV000111691.1,