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

rs201738967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Carrier of a Wilson disease mutation
(T;T) 0 common in clinvar


Make rs201738967(C;C)
ReferenceGRCh38 38.1/142
Chromosome13
Position51975098
GeneATP7B
is asnp
is mentioned by
dbSNPrs201738967
dbSNP (classic)rs201738967
ClinGenrs201738967
ebirs201738967
HLIrs201738967
Exacrs201738967
Gnomadrs201738967
Varsomers201738967
LitVarrs201738967
Maprs201738967
PheGenIrs201738967
Biobankrs201738967
1000 genomesrs201738967
hgdprs201738967
ensemblrs201738967
geneviewrs201738967
scholarrs201738967
googlers201738967
pharmgkbrs201738967
gwascentralrs201738967
openSNPrs201738967
23andMers201738967
SNPshotrs201738967
SNPdbers201738967
MSV3drs201738967
GWAS Ctlgrs201738967
Max Magnitude3
ClinVar
Risk rs201738967(C;C)
Alt rs201738967(C;C)
Reference Rs201738967(T;T)
Significance Other
Disease Wilson disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson disease not provided
Reversed 0
HGVS NC_000013.10:g.52549234T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000145251.2, RCV000416017.1,