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.
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
Impaired vibration sensation in the lower limbs
4 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
Pain
CUI: C0030193
Disease: Pain
196 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
Progressive inability to walk
CUI: C1836843
Disease: Progressive inability to walk
3 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0