rs1057518932, EFTUD2

N. diseases: 2
Source: CURATED ×
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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 1.000 17 44855003 missense variant T/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 1.000 17 44855003 missense variant T/A snv 0.700 0