TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
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: rs80356544
rs80356544 		1.000 0.080 10 100989770 missense variant C/T snv 1.4E-05
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2005 2012
dbSNP: rs758026634
rs758026634 		0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05
CUI: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2007 2013
dbSNP: rs1085307937
rs1085307937 		0.925 0.200 10 100989835 missense variant G/A snv
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs111033573
rs111033573 		1.000 0.200 10 100989285 missense variant G/A;T snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs111033577
rs111033577 		1.000 0.200 10 100989352 missense variant T/C;G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1408088932
rs1408088932 		1.000 0.200 10 100988626 missense variant G/A snv 7.0E-06
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs141315771
rs141315771 		1.000 0.280 10 100993257 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1554887028
rs1554887028 		10 100989213 missense variant C/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554887097
rs1554887097 		0.807 0.320 10 100989331 missense variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554887213
rs1554887213 		1.000 0.200 10 100989774 splice acceptor variant G/T snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554887222
rs1554887222 		10 100989791 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs28937887
rs28937887 		1.000 10 100989211 missense variant G/A;T snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs369588002
rs369588002 		1.000 10 100990470 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.700 1.000 1 2014 2014
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
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 2016 2016
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs374997012
rs374997012 		0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0576690
Disease: Impaired body position sense
Impaired body position sense 		0.700 1.000 1 2016 2016
dbSNP: rs556445621
rs556445621 		1.000 10 100989382 missense variant G/A;T snv 6.4E-05
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.700 1.000 1 2014 2014
dbSNP: rs672601360
rs672601360 		1.000 10 100993209 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.800 1.000 1 2014 2014
dbSNP: rs672601361
rs672601361 		1.000 10 100989721 missense variant T/G snv 4.0E-06; 8.0E-06 1.4E-05
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.800 1.000 1 2014 2014