Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT Two novel CTNS mutations in cystinosis patients in Thailand. 22450360

2012
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT Genetic basis of cystinosis in Turkish patients: a single-center experience. 21786142

2012
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT Characterization of CTNS mutations in Arab patients with cystinosis. 19852576

2009
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT Mutational spectrum of the CTNS gene in Italy. 12825071

2003
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 12442267

2002
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 12204010

2002
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 10556299

1999
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 10482956

1999
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
0.700 GeneticVariation UNIPROT CTNS mutations in an American-based population of cystinosis patients. 9792862

1998