ACO2, aconitase 2, 50

N. diseases: 74; 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: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0