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rs80357248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357248(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074385
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357248
ebirs80357248
HLIrs80357248
Exacrs80357248
Varsomers80357248
Maprs80357248
PheGenIrs80357248
hapmaprs80357248
1000 genomesrs80357248
hgdprs80357248
ensemblrs80357248
gopubmedrs80357248
geneviewrs80357248
scholarrs80357248
googlers80357248
pharmgkbrs80357248
gwascentralrs80357248
openSNPrs80357248
23andMers80357248
23andMe allrs80357248
SNP Nexus

SNPshotrs80357248
SNPdbers80357248
MSV3drs80357248
GWAS Ctlgrs80357248
Max Magnitude6
rs80357248, also known as E1541X, c.4621G>T and p.Glu1541Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357248(T;T)
Alt rs80357248(T;T)
Reference rs80357248(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.41226402C>A
CLNSRC ClinVar
CLNACC RCV000048608.2, RCV000112365.1,