rs1195505218, SLC25A22

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Early myoclonic encephalopathy
CUI: C0270855
Disease: Early myoclonic encephalopathy
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
0.700 CausalMutation CLINVAR