Disease: Childhood Ataxia with Central Nervous System Hypomyelinization ×
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: rs397514647
rs397514647 		1.000 0.040 1 44981089 missense variant A/T snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.800 1.000 3 2002 2011
dbSNP: rs113994022
rs113994022 		0.925 0.040 1 44978349 missense variant G/A snv 8.8E-05 1.2E-04
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs119474039
rs119474039 		1.000 0.040 1 44875634 missense variant A/G snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs113994024
rs113994024 		1.000 0.040 1 44881722 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs141988913
rs141988913 		0.925 0.040 1 44978337 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0