rs375952052, CTNS

N. diseases: 3
Disease: Juvenile nephropathic cystinosis (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile nephropathic cystinosis (disorder)
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
0.700 GeneticVariation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109 2015
Juvenile nephropathic cystinosis (disorder)
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
0.700 GeneticVariation CLINVAR Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 10556299 1999