Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908569
rs121908569
EIF2AK3
1 1.000 0.200 2 88583430 missense variant C/T snv 0.800 1.000 1 2000 2000
dbSNP: rs864621972
rs864621972
EIF2AK3
1 1.000 0.200 2 88588875 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121908570
rs121908570
EIF2AK3
1 1.000 0.200 2 88590826 stop gained C/A;G snv 1.2E-05 0.700 0
dbSNP: rs1553407942
rs1553407942
EIF2AK3 ; LOC101928371
1 1.000 0.200 2 88574725 stop gained G/A snv 0.700 0
dbSNP: rs1558652941
rs1558652941
EIF2AK3
1 1.000 0.200 2 88585918 frameshift variant TTTC/- delins 0.700 0
dbSNP: rs797045558
rs797045558
EIF2AK3
1 1.000 0.200 2 88585926 frameshift variant AC/- delins 0.700 0
dbSNP: rs869025178
rs869025178
EIF2AK3
1 1.000 0.200 2 88590572 frameshift variant -/A delins 0.700 0
dbSNP: rs869025179
rs869025179
EIF2AK3 ; LOC101928371
1 1.000 0.200 2 88570873 splice donor variant C/T snv 0.700 0