Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994207
rs113994207
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR CTNS mutations in publicly-available human cystinosis cell lines. 28649545

2015
dbSNP: rs113994207
rs113994207
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. 11505338

2001
dbSNP: rs113994207
rs113994207
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 10625078

2000
dbSNP: rs113994207
rs113994207
CTNS ; LOC105371492
A 0.700 GeneticVariation CLINVAR