Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894425
rs104894425
EIF2B2
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 		0.800 1.000 6 2001 2013
dbSNP: rs104894426
rs104894426
EIF2B2
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 		0.800 1.000 6 2001 2013
dbSNP: rs28937596
rs28937596
EIF2B5
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 		0.800 1.000 6 2001 2011
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
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 		0.800 1.000 6 2001 2011
dbSNP: rs397514646
rs397514646
EIF2B5
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 		0.800 1.000 6 2001 2011
dbSNP: rs397514648
rs397514648
EIF2B2
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 		0.800 1.000 6 2001 2013
dbSNP: rs397514647
rs397514647
EIF2B3
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 		0.800 1.000 3 2002 2011
dbSNP: rs104894428
rs104894428
EIF2B2
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 		0.700 1.000 6 2001 2013
dbSNP: rs113994011
rs113994011
EIF2B2
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 		0.700 0
dbSNP: rs113994016
rs113994016
EIF2B2
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 		0.700 0
dbSNP: rs113994020
rs113994020
EIF2B2
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 		0.700 0
dbSNP: rs113994028
rs113994028
EIF2B4
1.000 0.040 2 27368104 missense variant C/A;T snv 2.7E-05 2.8E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 0
dbSNP: rs113994031
rs113994031
EIF2B4
1.000 0.040 2 27367536 missense variant A/C;G snv 2.0E-05 2.1E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 0
dbSNP: rs113994038
rs113994038
EIF2B4
0.925 0.120 2 27364579 missense variant A/G snv 1.4E-05
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 0
dbSNP: rs113994040
rs113994040
EIF2B4
0.925 0.120 2 27364507 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 0
dbSNP: rs113994044
rs113994044
EIF2B5 ; LOC105374249
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 		0.700 0
dbSNP: rs113994045
rs113994045
EIF2B5 ; LOC105374249
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 		0.700 0
dbSNP: rs113994046
rs113994046
EIF2B5 ; LOC105374249
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 		0.700 0
dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
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 		0.700 0
dbSNP: rs113994050
rs113994050
EIF2B5
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 		0.700 0
dbSNP: rs113994055
rs113994055
EIF2B5
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 		0.700 0
dbSNP: rs113994057
rs113994057
EIF2B5
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 		0.700 0
dbSNP: rs113994058
rs113994058
EIF2B5
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 		0.700 0
dbSNP: rs113994060
rs113994060
EIF2B5
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 		0.700 0
dbSNP: rs113994062
rs113994062
EIF2B5
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 		0.700 0