rs397514648, EIF2B2

N. diseases: 2
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 0.925 0.040 14 75003365 missense variant T/A snv 7.2E-05 2.8E-05 0.800 1.000 6 2001 2013
Vanishing white matter disease
CUI: C2960129
Disease: Vanishing white matter disease
4 0.925 0.040 14 75003365 missense variant T/A snv 7.2E-05 2.8E-05 0.010 1.000 1 2014 2014