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

rs80357490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80357490(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094110
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357490
ebirs80357490
HLIrs80357490
Exacrs80357490
Varsomers80357490
Maprs80357490
PheGenIrs80357490
hapmaprs80357490
1000 genomesrs80357490
hgdprs80357490
ensemblrs80357490
gopubmedrs80357490
geneviewrs80357490
scholarrs80357490
googlers80357490
pharmgkbrs80357490
gwascentralrs80357490
openSNPrs80357490
23andMers80357490
23andMe allrs80357490
SNP Nexus

SNPshotrs80357490
SNPdbers80357490
MSV3drs80357490
GWAS Ctlgrs80357490
Max Magnitude6
rs80357490, also known as L474X, c.1421T>G and p.Leu474Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357490(G;G)
Alt rs80357490(G;G)
Reference rs80357490(T;T)
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.41246127A>C
CLNSRC ClinVar
CLNACC RCV000047472.2, RCV000111615.1,