rs1555817157, ABHD12

N. diseases: 16
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.
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
13 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Distal sensory impairment
CUI: C1847584
Disease: Distal sensory impairment
5 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Intention tremor
CUI: C4551520
Disease: Intention tremor
6 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
32 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
12 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
Subcapsular cataract
CUI: C0235259
Disease: Subcapsular cataract
1 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018