Disease: Cystinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994207
rs113994207
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		A 0.700 GeneticVariation CLINVAR CTNS mutations in African American patients with cystinosis. 11708862 2001
dbSNP: rs113994207
rs113994207
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		A 0.700 GeneticVariation CLINVAR The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. 11505338 2001
dbSNP: rs113994207
rs113994207
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		A 0.700 GeneticVariation CLINVAR The ocular cystinosis patients each had one severe mutation and one mild mutation, the latter consisting of either a 928 G-->A (G197R) mutation or an IVS10-3 C-->G splicing mutation resulting in the insertion of 182 bp of IVS10 into the CTNS mRNA. 10625078 2000
dbSNP: rs113994207
rs113994207
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		A 0.700 GeneticVariation CLINVAR CTNS mutations in patients with cystinosis. 10571941 1999
dbSNP: rs113994207
rs113994207
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis 		A 0.700 CausalMutation CLINVAR