Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908129
rs121908129
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C2749685
Disease:
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs267606754
rs267606754
Entrez Id: 1497;105371492
Gene Symbol: CTNS;LOC105371492
CTNS;LOC105371492
CUI: C2749685
Disease:
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
T 0.700 CausalMutation CLINVAR