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: 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: 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
dbSNP: rs770917763
rs770917763 		10 100989178 missense variant G/A;T snv 1.2E-05
CUI: C0848771
Disease: neurological disability
neurological disability 		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: C0848771
Disease: neurological disability
neurological disability 		0.010 1.000 1 2017 2017
dbSNP: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
CUI: C0576690
Disease: Impaired body position sense
Impaired body position sense 		0.700 1.000 1 2016 2016
dbSNP: rs1554887097
rs1554887097 		0.807 0.320 10 100989331 missense variant G/A snv
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		0.700 0
dbSNP: rs28937887
rs28937887 		1.000 10 100989211 missense variant G/A;T snv
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		0.700 0
dbSNP: rs754081544
rs754081544 		0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.700 0
dbSNP: rs759603316
rs759603316 		1.000 10 100989084 missense variant C/A;G snv 4.0E-06
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.700 0
dbSNP: rs758026634
rs758026634 		0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs80356540
rs80356540 		1.000 0.080 10 100990474 missense variant A/G snv 2.5E-04 2.7E-04
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.830 1.000 7 2005 2012
dbSNP: rs80356542
rs80356542 		1.000 0.080 10 100989162 missense variant G/A snv 4.0E-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 0.810 1.000 6 2005 2012
dbSNP: rs386834145
rs386834145 		1.000 0.080 10 100989766 missense variant C/G snv
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 5 2005 2012
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: 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: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
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: rs386834146
rs386834146 		1.000 0.080 10 100989787 missense variant C/G;T snv 8.0E-06
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs80356541
rs80356541 		1.000 0.080 10 100989687 synonymous variant C/T snv
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs80356543
rs80356543 		0.925 0.240 10 100989165 missense variant A/C;G snv
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs863223921
rs863223921 		0.925 0.280 10 100989406 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs886037832
rs886037832 		0.851 0.280 10 100988541 frameshift variant T/- delins
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