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rs80357009

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357009(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094768
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357009
ebirs80357009
HLIrs80357009
Exacrs80357009
Varsomers80357009
Maprs80357009
PheGenIrs80357009
hapmaprs80357009
1000 genomesrs80357009
hgdprs80357009
ensemblrs80357009
gopubmedrs80357009
geneviewrs80357009
scholarrs80357009
googlers80357009
pharmgkbrs80357009
gwascentralrs80357009
openSNPrs80357009
23andMers80357009
23andMe allrs80357009
SNP Nexus

SNPshotrs80357009
SNPdbers80357009
MSV3drs80357009
GWAS Ctlgrs80357009
Max Magnitude6
rs80357009, also known as E255X, c.763G>T and p.Glu255Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357009(T;T)
Alt rs80357009(T;T)
Reference rs80357009(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246785C>A
CLNSRC ClinVar
CLNACC RCV000049124.2, RCV000112783.1, RCV000162890.1,