ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777602
rs587777602 		0.882 0.160 20 25302260 missense variant G/C snv
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 7 2010 2018
dbSNP: rs587777604
rs587777604 		1.000 0.160 20 25317064 missense variant C/G;T snv 1.2E-05
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 7 2010 2018
dbSNP: rs7267979
rs7267979 		20 25317451 intron variant A/G snv 0.58
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs772987424
rs772987424 		1.000 0.160 20 25308486 stop gained G/A;C snv 2.0E-05
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 7 2010 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		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 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		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 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		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 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		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 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C4551520
Disease: Intention tremor
Intention tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157 		0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2236180
rs2236180 		20 25301972 missense variant T/C snv 0.16
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs2236180
rs2236180 		20 25301972 missense variant T/C snv 0.16
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs2297497
rs2297497 		20 25317273 intron variant G/A snv 0.55
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs746748
rs746748 		20 25302331 missense variant C/T snv 4.2E-02 4.0E-02
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs758316679
rs758316679 		20 25339350 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2012 2012