ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION ×
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: rs786200924
rs786200924 		1.000 22 41507953 missense variant C/G snv
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 1.000 2 2012 2014
dbSNP: rs786204828
rs786204828 		1.000 22 41515858 missense variant G/A snv
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 0
dbSNP: rs786204829
rs786204829 		1.000 22 41528022 missense variant G/C snv
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 0
dbSNP: rs1114167284
rs1114167284 		1.000 22 41528607 frameshift variant CA/- delins
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.700 0
dbSNP: rs786204830
rs786204830 		1.000 22 41528595 frameshift variant GGAA/- delins
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.700 0
dbSNP: rs864309499
rs864309499 		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