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

rs80357148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357148(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076492
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357148
ebirs80357148
HLIrs80357148
Exacrs80357148
Varsomers80357148
Maprs80357148
PheGenIrs80357148
hapmaprs80357148
1000 genomesrs80357148
hgdprs80357148
ensemblrs80357148
gopubmedrs80357148
geneviewrs80357148
scholarrs80357148
googlers80357148
pharmgkbrs80357148
gwascentralrs80357148
openSNPrs80357148
23andMers80357148
23andMe allrs80357148
SNP Nexus

SNPshotrs80357148
SNPdbers80357148
MSV3drs80357148
GWAS Ctlgrs80357148
Max Magnitude6
rs80357148, also known as E1494X, c.4480G>T and p.Glu1494Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357148(A,T;A,T)
Alt rs80357148(A,T;A,T)
Reference rs80357148(G;G)
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.41228509C>A; NC_000017.10:g.41228509C>T
CLNSRC ClinVar
CLNACC RCV000048569.2, RCV000112338.1, RCV000048568.2, RCV000112337.1,