Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375952052
rs375952052
CTNS
A 0.700 GeneticVariation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109

2015
dbSNP: rs375952052
rs375952052
CTNS
A 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