Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
0.020 GeneticVariation BEFREE The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. 30413946

2019
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
0.020 GeneticVariation BEFREE Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis. 11855931

2002