Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759623796
rs759623796
CTNS ; LOC105371492
T 0.700 CausalMutation CLINVAR Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. 26266097

2015
dbSNP: rs759623796
rs759623796
CTNS ; LOC105371492
T 0.700 CausalMutation CLINVAR Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 10556299

1999