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rs80356951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356951(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092986
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356951
ebirs80356951
HLIrs80356951
Exacrs80356951
Varsomers80356951
Maprs80356951
PheGenIrs80356951
hapmaprs80356951
1000 genomesrs80356951
hgdprs80356951
ensemblrs80356951
gopubmedrs80356951
geneviewrs80356951
scholarrs80356951
googlers80356951
pharmgkbrs80356951
gwascentralrs80356951
openSNPrs80356951
23andMers80356951
23andMe allrs80356951
SNP Nexus

SNPshotrs80356951
SNPdbers80356951
MSV3drs80356951
GWAS Ctlgrs80356951
Max Magnitude6
rs80356951, also known as E849X, c.2545G>T and p.Glu849Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356951(T;T)
Alt rs80356951(T;T)
Reference rs80356951(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.41245003C>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047872.2, RCV000111887.1, RCV000131874.2,