Disease: Cystinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1475322504
rs1475322504
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		G 0.700 CausalMutation CLINVAR New aspects of the pathogenesis of cystinosis. 12644911 2003
dbSNP: rs1475322504
rs1475322504
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		G 0.700 CausalMutation CLINVAR Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 12442267 2002