rs28937596, EIF2B5

N. diseases: 1
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 1.000 0.040 3 184144111 missense variant T/C snv 0.800 1.000 6 2001 2011