Disease: Cystinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs550254092
rs550254092
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		T 0.700 GeneticVariation CLINVAR CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis. 27625850 2013
dbSNP: rs550254092
rs550254092
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		T 0.700 GeneticVariation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862 1998
dbSNP: rs550254092
rs550254092
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		T 0.700 GeneticVariation CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412 1998
dbSNP: rs550254092
rs550254092
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		T 0.700 CausalMutation CLINVAR