TOP3A, DNA topoisomerase III alpha, 7156

N. diseases: 52; N. variants: 9
Disease: Mitochondrial Diseases ×
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: rs200944917
rs200944917 		17 18305208 stop gained G/A;T snv 1.0E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs376902371
rs376902371 		1.000 17 18308367 missense variant T/C snv 6.4E-05 3.5E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2018 2018