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

rs80356993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356993(C;C)
Make rs80356993(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43063937
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356993
ClinGenrs80356993
ebirs80356993
HLIrs80356993
Exacrs80356993
Varsomers80356993
Maprs80356993
PheGenIrs80356993
hapmaprs80356993
1000 genomesrs80356993
hgdprs80356993
ensemblrs80356993
gopubmedrs80356993
geneviewrs80356993
scholarrs80356993
googlers80356993
pharmgkbrs80356993
gwascentralrs80356993
openSNPrs80356993
23andMers80356993
23andMe allrs80356993
SNP Nexus

SNPshotrs80356993
SNPdbers80356993
MSV3drs80356993
GWAS Ctlgrs80356993
Max Magnitude0
ClinVar
Risk rs80356993(A;A) rs80356993(C;C)
Alt rs80356993(A;A) rs80356993(C;C)
Reference Rs80356993(T;T)
Significance Probable-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.41215954A>G; NC_000017.10:g.41215954A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000048785.2, RCV000077594.3, RCV000163799.2, RCV000129428.2,