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rs80356978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356978(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092809
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356978
ebirs80356978
HLIrs80356978
Exacrs80356978
Varsomers80356978
Maprs80356978
PheGenIrs80356978
hapmaprs80356978
1000 genomesrs80356978
hgdprs80356978
ensemblrs80356978
gopubmedrs80356978
geneviewrs80356978
scholarrs80356978
googlers80356978
pharmgkbrs80356978
gwascentralrs80356978
openSNPrs80356978
23andMers80356978
23andMe allrs80356978
SNP Nexus

SNPshotrs80356978
SNPdbers80356978
MSV3drs80356978
GWAS Ctlgrs80356978
Max Magnitude6
rs80356978, also known as E908X, c.2722G>T and p.Glu908Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356978(T;T)
Alt rs80356978(T;T)
Reference rs80356978(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast cancer not specified
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Breast cancer not specified
Reversed 1
HGVS NC_000017.10:g.41244826C>A
CLNSRC Ambry Genetics ClinVar University of Washington
CLNACC RCV000047943.3, RCV000074576.6, RCV000077527.4, RCV000131878.2, RCV000148387.1, RCV000239255.1,