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rs80357204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357204(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067683
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357204
ebirs80357204
HLIrs80357204
Exacrs80357204
Varsomers80357204
Maprs80357204
PheGenIrs80357204
hapmaprs80357204
1000 genomesrs80357204
hgdprs80357204
ensemblrs80357204
gopubmedrs80357204
geneviewrs80357204
scholarrs80357204
googlers80357204
pharmgkbrs80357204
gwascentralrs80357204
openSNPrs80357204
23andMers80357204
23andMe allrs80357204
SNP Nexus

SNPshotrs80357204
SNPdbers80357204
MSV3drs80357204
GWAS Ctlgrs80357204
Max Magnitude6
rs80357204, also known as K1667X, c.4999A>T and p.Lys1667Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357204(T;T)
Alt rs80357204(T;T)
Reference rs80357204(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41219700T>A
CLNSRC ClinVar
CLNACC RCV000048735.2, RCV000112459.1, RCV000235971.1,