rs375952052, CTNS

N. diseases: 3
Disease: Cystinosis, benign, nonnephropathic ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystinosis, benign, nonnephropathic
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
0.700 GeneticVariation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109 2015
Cystinosis, benign, nonnephropathic
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
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