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rs80357058

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357058(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093343
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357058
ebirs80357058
HLIrs80357058
Exacrs80357058
Varsomers80357058
Maprs80357058
PheGenIrs80357058
hapmaprs80357058
1000 genomesrs80357058
hgdprs80357058
ensemblrs80357058
gopubmedrs80357058
geneviewrs80357058
scholarrs80357058
googlers80357058
pharmgkbrs80357058
gwascentralrs80357058
openSNPrs80357058
23andMers80357058
23andMe allrs80357058
SNP Nexus

SNPshotrs80357058
SNPdbers80357058
MSV3drs80357058
GWAS Ctlgrs80357058
Max Magnitude6
rs80357058, also known as E730X, c.2188G>T and p.Glu730Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357058(T;T)
Alt rs80357058(T;T)
Reference rs80357058(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.41245360C>A
CLNSRC ClinVar
CLNACC RCV000047747.2, RCV000111782.1,