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: rs28939717
rs28939717 		1.000 0.040 3 184136687 missense variant A/G snv 3.6E-05 3.5E-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 9 2001 2011
dbSNP: rs28937596
rs28937596 		1.000 0.040 3 184144111 missense variant T/C 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 6 2001 2011
dbSNP: rs397514646
rs397514646 		1.000 0.040 3 184140122 missense variant G/A;C;T snv 4.0E-06; 1.2E-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 2011
dbSNP: rs113994054
rs113994054 		1.000 0.040 3 184137975 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.710 1.000 2 2002 2015
dbSNP: rs113994049
rs113994049 		0.882 0.160 3 184137637 missense variant G/A snv 2.1E-04 2.7E-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 5 2003 2014
dbSNP: rs113994061
rs113994061 		1.000 0.040 3 184140499 missense variant G/C snv 1.2E-05 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 1.000 1 2004 2004
dbSNP: rs113994069
rs113994069 		1.000 0.040 3 184140590 missense variant G/A;C;T snv 6.0E-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 1 2010 2010
dbSNP: rs1064794256
rs1064794256 		1.000 0.040 3 184144175 missense variant T/C snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994043
rs113994043 		1.000 0.040 3 184135551 missense variant T/G snv 4.8E-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: rs113994044
rs113994044 		1.000 0.040 3 184136619 missense variant T/C 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: rs113994045
rs113994045 		1.000 0.040 3 184136634 missense variant T/G snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994046
rs113994046 		1.000 0.040 3 184136636 missense variant G/A snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994048
rs113994048 		1.000 0.040 3 184136734 missense variant A/T snv 4.4E-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: rs113994050
rs113994050 		1.000 0.040 3 184137636 missense variant C/T 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
dbSNP: rs113994053
rs113994053 		1.000 0.040 3 184137936 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994055
rs113994055 		0.925 0.120 3 184137974 missense variant C/T snv 7.0E-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: rs113994057
rs113994057 		1.000 0.040 3 184140120 stop gained G/A;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: rs113994058
rs113994058 		1.000 0.040 3 184140119 missense variant C/G snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994060
rs113994060 		0.925 0.120 3 184140470 missense variant G/A snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994062
rs113994062 		1.000 0.040 3 184140503 missense variant G/T snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994063
rs113994063 		0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994064
rs113994064 		1.000 0.040 3 184140518 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994067
rs113994067 		1.000 0.040 3 184140577 missense variant T/C snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0
dbSNP: rs113994068
rs113994068 		1.000 0.040 3 184140589 missense variant C/A;T snv 8.0E-06; 2.4E-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: rs113994074
rs113994074 		1.000 0.040 3 184141925 missense variant G/T snv
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		Nervous System Diseases 0.700 0