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

rs779323689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs779323689(C;T)
Make rs779323689(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51949699
GeneATP7B
is asnp
is mentioned by
dbSNPrs779323689
dbSNP (classic)rs779323689
ClinGenrs779323689
ebirs779323689
HLIrs779323689
Exacrs779323689
Gnomadrs779323689
Varsomers779323689
LitVarrs779323689
Maprs779323689
PheGenIrs779323689
Biobankrs779323689
1000 genomesrs779323689
hgdprs779323689
ensemblrs779323689
geneviewrs779323689
scholarrs779323689
googlers779323689
pharmgkbrs779323689
gwascentralrs779323689
openSNPrs779323689
23andMers779323689
SNPshotrs779323689
SNPdbers779323689
MSV3drs779323689
GWAS Ctlgrs779323689
Max Magnitude0
ClinVar
Risk rs779323689(T;T)
Alt rs779323689(T;T)
Reference Rs779323689(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52523835C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000169455.1,