Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
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
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
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 		0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
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
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.700 0