Gene: EFTUD2 ×
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: rs387906877
rs387906877
EFTUD2
1 1.000 0.280 17 44876019 missense variant G/A snv 0.800 1.000 1 2012 2012
dbSNP: rs387906879
rs387906879
EFTUD2
1 1.000 0.280 17 44859132 missense variant A/C snv 0.800 1.000 1 2012 2012
dbSNP: rs1057520673
rs1057520673
EFTUD2
1 1.000 0.280 17 44860033 stop gained G/A snv 0.700 0
dbSNP: rs1085307647
rs1085307647
EFTUD2
1 1.000 0.280 17 44868286 splice donor variant C/T snv 0.700 0
dbSNP: rs1135401812
rs1135401812
EFTUD2
1 1.000 0.280 17 44859986 frameshift variant TCCAC/- delins 0.700 0
dbSNP: rs1555564126
rs1555564126
EFTUD2
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs1555564341
rs1555564341
EFTUD2
1 1.000 0.280 17 44854617 stop gained C/T snv 0.700 0
dbSNP: rs1555565774
rs1555565774
EFTUD2
16 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
dbSNP: rs387906878
rs387906878
EFTUD2
1 1.000 0.280 17 44851763 stop gained G/A snv 0.700 0
dbSNP: rs397515431
rs397515431
EFTUD2
1 1.000 0.280 17 44879635 missense variant T/C snv 0.700 0
dbSNP: rs794729651
rs794729651
EFTUD2
1 1.000 0.280 17 44876038 frameshift variant -/A delins 0.700 0
dbSNP: rs797045550
rs797045550
EFTUD2
1 1.000 0.280 17 44867806 splice donor variant C/G snv 0.700 0
dbSNP: rs797045551
rs797045551
EFTUD2
1 1.000 0.280 17 44863770 frameshift variant AT/- del 0.700 0
dbSNP: rs863224868
rs863224868
EFTUD2
1 1.000 0.280 17 44857073 splice donor variant A/C snv 0.700 0
dbSNP: rs879253725
rs879253725
EFTUD2
1 1.000 0.280 17 44860005 frameshift variant CA/- delins 0.700 0
dbSNP: rs879253726
rs879253726
EFTUD2
1 1.000 0.280 17 44853364 stop gained G/T snv 0.700 0
dbSNP: rs879253727
rs879253727
EFTUD2
1 1.000 0.280 17 44853361 stop gained G/C snv 0.700 0
dbSNP: rs879253728
rs879253728
EFTUD2
1 1.000 0.280 17 44851709 splice donor variant C/- delins 0.700 0