COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
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: rs1553281318
rs1553281318
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.700 0