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rs80357472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357472(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094477
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357472
ebirs80357472
HLIrs80357472
Exacrs80357472
Varsomers80357472
Maprs80357472
PheGenIrs80357472
hapmaprs80357472
1000 genomesrs80357472
hgdprs80357472
ensemblrs80357472
gopubmedrs80357472
geneviewrs80357472
scholarrs80357472
googlers80357472
pharmgkbrs80357472
gwascentralrs80357472
openSNPrs80357472
23andMers80357472
23andMe allrs80357472
SNP Nexus

SNPshotrs80357472
SNPdbers80357472
MSV3drs80357472
GWAS Ctlgrs80357472
Max Magnitude6
rs80357472, also known as E352X, c.1054G>T and p.Glu352Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357472(T;T)
Alt rs80357472(T;T)
Reference rs80357472(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41246494C>A
CLNSRC ClinVar
CLNACC RCV000047319.2, RCV000111532.1, RCV000162843.1, RCV000235441.1,