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.
Absent or delayed speech development
CUI: C3276611
Disease: Absent or delayed speech development
9 21 37490353 frameshift variant -/A delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 21 37490353 frameshift variant -/A delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 21 37490353 frameshift variant -/A delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 21 37490353 frameshift variant -/A delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 21 37490353 frameshift variant -/A delins 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 21 37490353 frameshift variant -/A delins 0.700 0