Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C4551520
Disease: Intention tremor
Intention tremor 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2018 2018