CA8, carbonic anhydrase 8, 767

N. diseases: 87; N. variants: 7
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 ×
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: rs267606695
rs267606695 		1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs1563390893
rs1563390893 		0.851 0.200 8 60281047 splice donor variant C/T snv
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387906598
rs387906598 		1.000 0.160 8 60222677 missense variant C/T snv 8.0E-06
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs79267946
rs79267946 		1.000 0.160 8 60232322 stop gained T/A;C snv
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0