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: rs886040856
rs886040856
EIF2S3
1 1.000 0.240 X 24066002 missense variant T/G snv 0.810 1.000 4 2012 2019
dbSNP: rs886040855
rs886040855
EIF2S3
1 1.000 0.240 X 24064228 missense variant T/C snv 0.800 1.000 3 2012 2017
dbSNP: rs1057515578
rs1057515578
EIF2S3
1 1.000 0.240 X 24057695 missense variant T/A;C snv 5.5E-06 0.710 1.000 1 2017 2017
dbSNP: rs751468976
rs751468976
EIF2S3
1 1.000 0.240 X 24060135 missense variant C/A;T snv 0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0