TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Infantile onset spinocerebellar ataxia ×
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: 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