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.
Aplasia/Hypoplasia of the nails
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
4 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0