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: rs113994031
rs113994031
EIF2B4
1 1.000 0.040 2 27367536 missense variant A/C;G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs863225052
rs863225052
EIF2B1
1 1.000 0.040 12 123622674 missense variant A/C;G snv 0.700 0
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: rs119474039
rs119474039
EIF2B3
1 1.000 0.040 1 44875634 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1406758215
rs1406758215
EIF2B4
1 1.000 0.040 2 27364864 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs113994016
rs113994016
EIF2B2
2 0.925 0.080 14 75006701 missense variant A/G snv 2.0E-05 0.700 0
dbSNP: rs113994038
rs113994038
EIF2B4
2 0.925 0.120 2 27364579 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs113994040
rs113994040
EIF2B4
2 0.925 0.120 2 27364507 missense variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs907041830
rs907041830
EIF2B5
3 1.000 0.040 3 184140584 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs397514647
rs397514647
EIF2B3
1 1.000 0.040 1 44981089 missense variant A/T snv 0.800 1.000 3 2002 2011
dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
2 1.000 0.040 3 184136734 missense variant A/T snv 4.4E-05 2.1E-05 0.700 0
dbSNP: rs113994014
rs113994014
EIF2B2
2 0.925 0.120 14 75005875 frameshift variant ATGGCT/TG delins 0.700 1.000 4 2001 2005
dbSNP: rs863225048
rs863225048
EIF2B1
1 1.000 0.040 12 123626429 missense variant C/A snv 0.700 0
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: 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
dbSNP: rs113994068
rs113994068
EIF2B5
1 1.000 0.040 3 184140589 missense variant C/A;T snv 8.0E-06; 2.4E-05 0.700 0
dbSNP: rs113994058
rs113994058
EIF2B5
1 1.000 0.040 3 184140119 missense variant C/G snv 0.700 0
dbSNP: rs113994063
rs113994063
EIF2B5
5 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs1347693309
rs1347693309
EIF2B4
1 1.000 0.040 2 27367777 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
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: 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: 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: rs113994037
rs113994037
EIF2B4
1 1.000 0.040 2 27366758 splice donor variant C/T snv 0.700 0
dbSNP: rs113994050
rs113994050
EIF2B5
1 1.000 0.040 3 184137636 missense variant C/T snv 8.0E-06 0.700 0