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.
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0