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: rs199469637
rs199469637
KLHL3
1 1.000 0.120 5 137692381 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs199469644
rs199469644
KLHL3
1 1.000 0.120 5 137634077 stop gained C/T snv 0.700 0
dbSNP: rs199469647
rs199469647
KLHL3
1 1.000 0.120 5 137661947 frameshift variant G/- del 0.700 0
dbSNP: rs199469648
rs199469648
KLHL3
1 1.000 0.120 5 137661914 splice donor variant C/T snv 0.700 0
dbSNP: rs199469655
rs199469655
CUL3
1 1.000 0.120 2 224503793 synonymous variant C/T snv 0.700 0
dbSNP: rs199469657
rs199469657
CUL3
1 1.000 0.120 2 224503648 splice donor variant CCTTTA/- delins 0.700 0
dbSNP: rs199469659
rs199469659
CUL3
1 1.000 0.120 2 224503650 splice region variant -/C delins 0.700 0
dbSNP: rs199469660
rs199469660
CUL3
1 1.000 0.120 2 224503651 splice donor variant C/G snv 0.700 0
dbSNP: rs199469661
rs199469661
CUL3
1 1.000 0.120 2 224503649 splice region variant T/C snv 0.700 0
dbSNP: rs1282322803
rs1282322803
KLHL3
2 0.925 0.120 5 137625803 missense variant T/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs36002646
rs36002646
KLHL3
2 0.925 0.120 5 137637295 splice region variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs199469623
rs199469623
KLHL3
2 0.925 0.120 5 137709761 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs199469624
rs199469624
KLHL3
2 0.925 0.120 5 137709759 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs199469625
rs199469625
KLHL3
2 0.925 0.120 5 137698396 missense variant T/G snv 0.700 0
dbSNP: rs199469626
rs199469626
KLHL3
2 0.925 0.120 5 137692320 missense variant C/A snv 0.700 0
dbSNP: rs199469627
rs199469627
KLHL3
2 0.925 0.120 5 137639955 missense variant T/C snv 0.700 0
dbSNP: rs199469628
rs199469628
KLHL3
2 0.925 0.120 5 137639862 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs199469629
rs199469629
KLHL3
2 0.925 0.120 5 137639021 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs199469630
rs199469630
KLHL3
2 0.925 0.120 5 137639012 missense variant A/G snv 0.700 0
dbSNP: rs199469631
rs199469631
KLHL3
2 0.925 0.120 5 137637320 missense variant C/T snv 0.700 0
dbSNP: rs199469632
rs199469632
KLHL3
2 0.925 0.120 5 137637317 missense variant C/T snv 0.700 0
dbSNP: rs199469633
rs199469633
KLHL3
2 0.925 0.120 5 137628408 missense variant C/T snv 0.700 0
dbSNP: rs199469634
rs199469634
KLHL3
2 0.925 0.120 5 137628387 missense variant G/T snv 0.700 0
dbSNP: rs199469635
rs199469635
KLHL3
2 0.925 0.120 5 137628306 missense variant G/A snv 0.700 0
dbSNP: rs199469636
rs199469636
KLHL3
2 0.925 0.120 5 137628305 missense variant C/T snv 0.700 0