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 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0