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: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
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: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs754081544
rs754081544 		0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs754081544
rs754081544 		0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System 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: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
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: rs1554887097
rs1554887097 		0.807 0.320 10 100989331 missense variant G/A snv
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs754081544
rs754081544 		0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033572
rs111033572 		1.000 0.200 10 100989823 missense variant G/C snv
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 0.800 1.000 12 2001 2011
dbSNP: rs111033573
rs111033573 		1.000 0.200 10 100989285 missense variant G/A;T snv
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 0.800 1.000 12 2001 2011
dbSNP: rs111033574
rs111033574 		1.000 0.200 10 100989822 stop gained G/A;T snv
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 0.800 1.000 12 2001 2011
dbSNP: rs111033575
rs111033575 		1.000 0.200 10 100989154 stop gained G/A;T snv
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 0.800 1.000 12 2001 2011
dbSNP: rs111033576
rs111033576 		1.000 0.200 10 100989271 missense variant G/A;C snv 4.0E-06
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 0.800 1.000 12 2001 2011
dbSNP: rs111033577
rs111033577 		1.000 0.200 10 100989352 missense variant T/C;G snv
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 0.800 1.000 12 2001 2011
dbSNP: rs111033579
rs111033579 		1.000 0.200 10 100989316 missense variant C/A;G;T snv 4.0E-06
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 0.800 1.000 12 2001 2011
dbSNP: rs137852956
rs137852956 		1.000 0.200 10 100989118 missense variant G/A;C snv 1.2E-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 0.800 1.000 12 2001 2011
dbSNP: rs1554887075
rs1554887075 		1.000 0.200 10 100989294 missense variant G/C snv
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 12 2001 2011
dbSNP: rs1554887097
rs1554887097 		0.807 0.320 10 100989331 missense variant G/A snv
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 12 2001 2011
dbSNP: rs1554887213
rs1554887213 		1.000 0.200 10 100989774 splice acceptor variant G/T snv
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 12 2001 2011
dbSNP: rs80356543
rs80356543 		0.925 0.240 10 100989165 missense variant A/C;G snv
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 0.800 1.000 12 2001 2011
dbSNP: rs863223920
rs863223920 		1.000 0.200 10 100989320 missense variant C/G snv
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 12 2001 2011
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: 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: rs758026634
rs758026634 		0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05
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 2013 2013