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: rs113994022
rs113994022
EIF2B3
2 0.925 0.040 1 44978349 missense variant G/A snv 8.8E-05 1.2E-04 0.020 1.000 2 2012 2014
dbSNP: rs104894425
rs104894425
EIF2B2
3 0.882 0.120 14 75005906 missense variant A/G snv 3.2E-05 7.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs141988913
rs141988913
EIF2B3
2 0.925 0.040 1 44978337 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs397514648
rs397514648
EIF2B2
2 0.925 0.040 14 75003365 missense variant T/A snv 7.2E-05 2.8E-05 0.010 1.000 1 2014 2014