COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
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: rs148156462
rs148156462
0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015