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: rs104894425
rs104894425 		0.882 0.120 14 75005906 missense variant A/G snv 3.2E-05 7.0E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.800 1.000 8 2001 2013
dbSNP: rs104894426
rs104894426 		1.000 0.040 14 75009079 missense variant T/A snv 1.6E-05 7.0E-06
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.800 1.000 6 2001 2013
dbSNP: rs397514648
rs397514648 		0.925 0.040 14 75003365 missense variant T/A snv 7.2E-05 2.8E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.800 1.000 6 2001 2013
dbSNP: rs104894428
rs104894428 		0.925 0.120 14 75004815 missense variant C/A;T snv 1.2E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 1.000 6 2001 2013
dbSNP: rs113994012
rs113994012 		1.000 0.040 14 75005867 missense variant G/C;T snv 2.5E-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 6 2003 2016
dbSNP: rs113994014
rs113994014 		0.925 0.120 14 75005875 frameshift variant ATGGCT/TG delins
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 1.000 4 2001 2005
dbSNP: rs113994011
rs113994011 		1.000 0.040 14 75004889 missense variant C/T snv 8.0E-06 1.4E-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: rs113994016
rs113994016 		0.925 0.080 14 75006701 missense variant A/G snv 2.0E-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: rs113994020
rs113994020 		1.000 0.040 14 75009118 missense variant G/T snv 4.0E-06
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs372548739
rs372548739 		1.000 0.040 14 75009054 missense variant G/A;C snv 8.0E-06
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0