Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356868(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047661
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356868
ebirs80356868
HLIrs80356868
Exacrs80356868
Varsomers80356868
Maprs80356868
PheGenIrs80356868
hapmaprs80356868
1000 genomesrs80356868
hgdprs80356868
ensemblrs80356868
gopubmedrs80356868
geneviewrs80356868
scholarrs80356868
googlers80356868
pharmgkbrs80356868
gwascentralrs80356868
openSNPrs80356868
23andMers80356868
23andMe allrs80356868
SNP Nexus

SNPshotrs80356868
SNPdbers80356868
MSV3drs80356868
GWAS Ctlgrs80356868
Max Magnitude6
rs80356868, also known as E1817X, c.5449G>T and p.Glu1817Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356868(T;T)
Alt rs80356868(T;T)
Reference rs80356868(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.41199678C>A
CLNSRC ClinVar
CLNACC RCV000048999.2, RCV000112657.1,