VLDLR, very low density lipoprotein receptor, 7436

N. diseases: 143; N. variants: 24
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 ×
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: rs1563764078
rs1563764078 		1.000 0.160 9 2648349 splice donor variant T/C snv
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs397514750
rs397514750 		1.000 0.160 9 2650382 missense variant G/T snv
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398122380
rs398122380 		1.000 0.160 9 2645017 frameshift variant TACAAGT/- delins
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs80338905
rs80338905 		1.000 0.160 9 2645603 stop gained C/A;T snv
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs80338906
rs80338906 		0.925 0.160 9 2651877 frameshift variant T/- del
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs80338907
rs80338907 		0.925 0.160 9 2643480 stop gained C/A;T snv 4.0E-06
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0