Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204541
rs786204541
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis
CC 0.700 GeneticVariation CLINVAR New aspects of the pathogenesis of cystinosis. 12644911 2003
dbSNP: rs786204541
rs786204541
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis
CC 0.700 GeneticVariation CLINVAR CTNS mutations in African American patients with cystinosis. 11708862 2001
dbSNP: rs786204541
rs786204541
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis
CC 0.700 GeneticVariation CLINVAR CTNS mutations in patients with cystinosis. 10571941 1999