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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 8 143816728 missense variant C/T snv 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.925 0.040 8 143816728 missense variant C/T snv 0.700 0