rs1565035177, SLC25A22

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Early myoclonic encephalopathy
CUI: C0270855
Disease: Early myoclonic encephalopathy
7 0.925 0.040 11 792146 frameshift variant CA/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 11 792146 frameshift variant CA/- delins 0.700 0
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
9 0.925 0.040 11 792146 frameshift variant CA/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 11 792146 frameshift variant CA/- delins 0.700 0