Disease: Cystinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994211
rs113994211
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		G 0.700 GeneticVariation CLINVAR Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. 11562417 2001
dbSNP: rs113994211
rs113994211
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		G 0.700 GeneticVariation CLINVAR Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 10556299 1999
dbSNP: rs113994211
rs113994211
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		G 0.700 CausalMutation CLINVAR