Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204420
rs786204420
CTNS ; LOC105371492
CG 0.700 CausalMutation CLINVAR Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. 27533158

2016
dbSNP: rs786204420
rs786204420
CTNS ; LOC105371492
CG 0.700 CausalMutation CLINVAR Detailed studies of growth hormone secretion in cystinosis patients. 22664570

2012
dbSNP: rs786204420
rs786204420
CTNS ; LOC105371492
CG 0.700 CausalMutation CLINVAR Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 12442267

2002
dbSNP: rs786204420
rs786204420
CTNS ; LOC105371492
CG 0.700 CausalMutation CLINVAR Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 12204010

2002
dbSNP: rs786204420
rs786204420
CTNS ; LOC105371492
CG 0.700 CausalMutation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862

1998
dbSNP: rs786204420
rs786204420
CTNS ; LOC105371492
CG 0.700 GeneticVariation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862

1998