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.
Auditory neuropathy
CUI: C1852271
Disease: Auditory neuropathy
20 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
13 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
Decreased vibratory sense
CUI: C1295585
Disease: Decreased vibratory sense
8 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
Impaired body position sense
CUI: C0576690
Disease: Impaired body position sense
2 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
Infantile onset spinocerebellar ataxia
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
10 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
Ophthalmoplegia
CUI: C0029089
Disease: Ophthalmoplegia
12 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016