Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204501
rs786204501
CTNS ; LOC105371493
G 0.700 CausalMutation CLINVAR Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. 28276207

2016
dbSNP: rs786204501
rs786204501
CTNS ; LOC105371493
G 0.700 CausalMutation CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412

1998