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

rs80356950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356950(A;A)
Make rs80356950(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093661
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356950
ebirs80356950
HLIrs80356950
Exacrs80356950
Varsomers80356950
Maprs80356950
PheGenIrs80356950
hapmaprs80356950
1000 genomesrs80356950
hgdprs80356950
ensemblrs80356950
gopubmedrs80356950
geneviewrs80356950
scholarrs80356950
googlers80356950
pharmgkbrs80356950
gwascentralrs80356950
openSNPrs80356950
23andMers80356950
23andMe allrs80356950
SNP Nexus

SNPshotrs80356950
SNPdbers80356950
MSV3drs80356950
GWAS Ctlgrs80356950
Max Magnitude6
rs80356950, also known as E624X, c.1870G>T and p.Glu624Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356950(A,T;A,T)
Alt rs80356950(A,T;A,T)
Reference rs80356950(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.41245678C>A; NC_000017.10:g.41245678C>T
CLNSRC ClinVar
CLNACC RCV000047614.2, RCV000111703.1, RCV000047613.2, RCV000111702.1,