Disease: Vanishing white matter disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894425
EIF2B2
0.882 0.120 14 75005906 missense variant A/G snv 3.2E-05 7.0E-05 3
rs113994022
EIF2B3
0.925 0.040 1 44978349 missense variant G/A snv 8.8E-05 1.2E-04 2
rs141988913
EIF2B3
0.925 0.040 1 44978337 missense variant C/T snv 1.2E-05 4.2E-05 2
rs397514648
EIF2B2
0.925 0.040 14 75003365 missense variant T/A snv 7.2E-05 2.8E-05 2