TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Ophthalmoplegia ×
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: 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