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: rs1554887097
rs1554887097 		0.807 0.320 10 100989331 missense variant G/A snv
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs758026634
rs758026634 		0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1554887097
rs1554887097 		0.807 0.320 10 100989331 missense variant G/A snv
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		Eye Diseases 0.700 0
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: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1554887097
rs1554887097 		0.807 0.320 10 100989331 missense variant G/A snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.700 0
dbSNP: rs1554887097
rs1554887097 		0.807 0.320 10 100989331 missense variant G/A snv
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs781652026
rs781652026 		10 100989789 missense variant G/A;T snv 4.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.010 1.000 1 2007 2007
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: 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: rs758026634
rs758026634 		0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05
CUI: C0033377
Disease: Ptosis
Ptosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs754081544
rs754081544 		0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		Pathological Conditions, Signs and Symptoms 0.700 0
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: rs863223921
rs863223921 		0.925 0.280 10 100989406 missense variant A/G snv 4.0E-06 1.4E-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: 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: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
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: 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: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016