rs113994063, EIF2B5

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Childhood Ataxia with Central Nervous System Hypomyelinization
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
63 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0