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: rs28939717
rs28939717
EIF2B5 ; LOC105374249
1 1.000 0.040 3 184136687 missense variant A/G snv 3.6E-05 3.5E-05 0.800 1.000 9 2001 2011
dbSNP: rs104894425
rs104894425
EIF2B2
3 0.882 0.120 14 75005906 missense variant A/G snv 3.2E-05 7.0E-05 0.800 1.000 8 2001 2013
dbSNP: rs104894426
rs104894426
EIF2B2
1 1.000 0.040 14 75009079 missense variant T/A snv 1.6E-05 7.0E-06 0.800 1.000 6 2001 2013
dbSNP: rs28937596
rs28937596
EIF2B5
1 1.000 0.040 3 184144111 missense variant T/C snv 0.800 1.000 6 2001 2011
dbSNP: rs397514646
rs397514646
EIF2B5
1 1.000 0.040 3 184140122 missense variant G/A;C;T snv 4.0E-06; 1.2E-05 0.800 1.000 6 2001 2011
dbSNP: rs397514648
rs397514648
EIF2B2
2 0.925 0.040 14 75003365 missense variant T/A snv 7.2E-05 2.8E-05 0.800 1.000 6 2001 2013
dbSNP: rs397514647
rs397514647
EIF2B3
1 1.000 0.040 1 44981089 missense variant A/T snv 0.800 1.000 3 2002 2011
dbSNP: rs113994054
rs113994054
EIF2B5
1 1.000 0.040 3 184137975 missense variant G/A snv 2.0E-05 7.0E-06 0.710 1.000 2 2002 2015
dbSNP: rs104894428
rs104894428
EIF2B2
2 0.925 0.120 14 75004815 missense variant C/A;T snv 1.2E-05 0.700 1.000 6 2001 2013
dbSNP: rs113994012
rs113994012
EIF2B2
1 1.000 0.040 14 75005867 missense variant G/C;T snv 2.5E-04 0.700 1.000 6 2003 2016
dbSNP: rs113994049
rs113994049
EIF2B5
4 0.882 0.160 3 184137637 missense variant G/A snv 2.1E-04 2.7E-04 0.700 1.000 5 2003 2014
dbSNP: rs113994014
rs113994014
EIF2B2
2 0.925 0.120 14 75005875 frameshift variant ATGGCT/TG delins 0.700 1.000 4 2001 2005
dbSNP: rs113994022
rs113994022
EIF2B3
2 0.925 0.040 1 44978349 missense variant G/A snv 8.8E-05 1.2E-04 0.700 1.000 1 2014 2014
dbSNP: rs113994061
rs113994061
EIF2B5
1 1.000 0.040 3 184140499 missense variant G/C snv 1.2E-05 1.4E-05 0.700 1.000 1 2004 2004
dbSNP: rs113994069
rs113994069
EIF2B5
1 1.000 0.040 3 184140590 missense variant G/A;C;T snv 6.0E-05 0.700 1.000 1 2010 2010
dbSNP: rs119474039
rs119474039
EIF2B3
1 1.000 0.040 1 44875634 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1064794256
rs1064794256
EIF2B5
1 1.000 0.040 3 184144175 missense variant T/C snv 0.700 0
dbSNP: rs113994006
rs113994006
EIF2B1
1 1.000 0.040 12 123630396 splice donor variant C/T snv 6.0E-05 6.3E-05 0.700 0
dbSNP: rs113994007
rs113994007
EIF2B1
1 1.000 0.040 12 123624792 missense variant T/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs113994011
rs113994011
EIF2B2
1 1.000 0.040 14 75004889 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs113994016
rs113994016
EIF2B2
2 0.925 0.080 14 75006701 missense variant A/G snv 2.0E-05 0.700 0
dbSNP: rs113994020
rs113994020
EIF2B2
1 1.000 0.040 14 75009118 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs113994024
rs113994024
EIF2B3
1 1.000 0.040 1 44881722 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs113994027
rs113994027
EIF2B4
1 1.000 0.040 2 27368047 missense variant G/A snv 0.700 0
dbSNP: rs113994028
rs113994028
EIF2B4
1 1.000 0.040 2 27368104 missense variant C/A;T snv 2.7E-05 2.8E-05 0.700 0