rs730882200, ARFGEF2

N. diseases: 3
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.
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0