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: rs104894699
rs104894699
0.925 0.120 19 50323694 missense variant C/T snv
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.820 1.000 9 2006 2015
dbSNP: rs104894700
rs104894700
0.925 0.200 19 50323609 missense variant G/C;T snv
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2006 2015
dbSNP: rs797044872
rs797044872
0.882 0.200 19 50323685 missense variant C/T snv
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1460306526
rs1460306526
1.000 0.080 19 50323019 missense variant G/C snv 7.0E-06
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 2006 2015
dbSNP: rs549394447
rs549394447
1.000 0.080 19 50323182 missense variant T/C snv 2.6E-03 3.2E-03
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 2006 2015
dbSNP: rs778523009
rs778523009
1.000 0.080 19 50323026 missense variant C/T snv 2.0E-04 2.7E-04
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 2006 2015
dbSNP: rs148033381
rs148033381
1.000 0.080 19 50323524 missense variant C/T snv 2.2E-04 1.9E-04
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555781806
rs1555781806
1.000 0.080 19 50329071 frameshift variant TG/- del
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs769502387
rs769502387
1.000 0.080 19 50323856 missense variant C/T snv 1.4E-05
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs879253883
rs879253883
1.000 0.080 19 50323670 missense variant G/A snv
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs958323371
rs958323371
1.000 0.080 19 50320284 missense variant C/T snv 7.5E-05
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894699
rs104894699
0.925 0.120 19 50323694 missense variant C/T snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894699
rs104894699
0.925 0.120 19 50323694 missense variant C/T snv
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894699
rs104894699
0.925 0.120 19 50323694 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894700
rs104894700
0.925 0.200 19 50323609 missense variant G/C;T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs797044872
rs797044872
0.882 0.200 19 50323685 missense variant C/T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs797044872
rs797044872
0.882 0.200 19 50323685 missense variant C/T snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010