Gene: EIF2B1 ×
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: 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: rs758746181
rs758746181
EIF2B1
1 1.000 0.040 12 123621850 missense variant T/C snv 7.2E-05 0.700 0
dbSNP: rs863225048
rs863225048
EIF2B1
1 1.000 0.040 12 123626429 missense variant C/A snv 0.700 0
dbSNP: rs863225049
rs863225049
EIF2B1
1 1.000 0.040 12 123621841 missense variant G/C snv 0.700 0
dbSNP: rs863225050
rs863225050
EIF2B1
1 1.000 0.040 12 123630210 missense variant T/C snv 0.700 0
dbSNP: rs863225051
rs863225051
EIF2B1
1 1.000 0.040 12 123624799 inframe deletion TCC/- delins 0.700 0
dbSNP: rs863225052
rs863225052
EIF2B1
1 1.000 0.040 12 123622674 missense variant A/C;G snv 0.700 0