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rs80357417

From SNPedia

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


Make rs80357417(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094265
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357417
ebirs80357417
HLIrs80357417
Exacrs80357417
Varsomers80357417
Maprs80357417
PheGenIrs80357417
hapmaprs80357417
1000 genomesrs80357417
hgdprs80357417
ensemblrs80357417
gopubmedrs80357417
geneviewrs80357417
scholarrs80357417
googlers80357417
pharmgkbrs80357417
gwascentralrs80357417
openSNPrs80357417
23andMers80357417
23andMe allrs80357417
SNP Nexus

SNPshotrs80357417
SNPdbers80357417
MSV3drs80357417
GWAS Ctlgrs80357417
Max Magnitude6
rs80357417, also known as Y422X, c.1266T>G and p.Tyr422Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357417(G;G)
Alt rs80357417(G;G)
Reference rs80357417(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.41246282A>C
CLNSRC ClinVar
CLNACC RCV000047401.2, RCV000111578.1,