Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994209
rs113994209
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C4316899
Disease:
Cystinosis
GC 0.700 CausalMutation CLINVAR