COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
Disease: 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: rs1553281318
rs1553281318 		0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs771578775
rs771578775 		1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 0.500 2 2010 2012