Disease: Cystinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204550
rs786204550
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		T 0.700 GeneticVariation CLINVAR Non-invasive measurements of atherosclerosis in adult cystinosis patients. 21305353 2011
dbSNP: rs786204550
rs786204550
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		T 0.700 GeneticVariation CLINVAR Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. 15128704 2004
dbSNP: rs786204550
rs786204550
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		T 0.700 GeneticVariation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862 1998