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: 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
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: rs113994035
rs113994035
EIF2B4
1 1.000 0.040 2 27366830 missense variant G/A snv 6.8E-05 7.0E-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: 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: rs113994043
rs113994043
EIF2B5 ; LOC105374249
1 1.000 0.040 3 184135551 missense variant T/G snv 4.8E-06 0.700 0
dbSNP: rs113994044
rs113994044
EIF2B5 ; LOC105374249
1 1.000 0.040 3 184136619 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs113994045
rs113994045
EIF2B5 ; LOC105374249
1 1.000 0.040 3 184136634 missense variant T/G snv 0.700 0
dbSNP: rs113994046
rs113994046
EIF2B5 ; LOC105374249
1 1.000 0.040 3 184136636 missense variant G/A snv 0.700 0
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: rs113994050
rs113994050
EIF2B5
1 1.000 0.040 3 184137636 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs113994053
rs113994053
EIF2B5
1 1.000 0.040 3 184137936 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs113994055
rs113994055
EIF2B5
2 0.925 0.120 3 184137974 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs113994057
rs113994057
EIF2B5
1 1.000 0.040 3 184140120 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs113994058
rs113994058
EIF2B5
1 1.000 0.040 3 184140119 missense variant C/G snv 0.700 0
dbSNP: rs113994060
rs113994060
EIF2B5
2 0.925 0.120 3 184140470 missense variant G/A snv 0.700 0