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: rs199469659
rs199469659
CUL3
1 1.000 0.120 2 224503650 splice region variant -/C delins 0.700 0
dbSNP: rs199469639
rs199469639
KLHL3
2 0.925 0.120 5 137639916 missense variant A/C snv 0.700 0
dbSNP: rs199469649
rs199469649
CUL3
2 0.925 0.120 2 224503850 non coding transcript exon variant A/C snv 6.7E-06 0.700 0
dbSNP: rs199469651
rs199469651
CUL3
2 0.925 0.120 2 224503834 non coding transcript exon variant A/C snv 0.700 0
dbSNP: rs199469630
rs199469630
KLHL3
2 0.925 0.120 5 137639012 missense variant A/G snv 0.700 0
dbSNP: rs199469642
rs199469642
KLHL3
2 0.925 0.120 5 137637335 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs199469652
rs199469652
CUL3
2 0.925 0.120 2 224503827 splice region variant A/T snv 0.700 0
dbSNP: rs199469626
rs199469626
KLHL3
2 0.925 0.120 5 137692320 missense variant C/A snv 0.700 0
dbSNP: rs199469640
rs199469640
KLHL3
2 0.925 0.120 5 137639874 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs199469660
rs199469660
CUL3
1 1.000 0.120 2 224503651 splice donor variant C/G snv 0.700 0
dbSNP: rs137853095
rs137853095
COA3 ; WNK4
4 0.851 0.160 17 42796244 missense variant C/T snv 1.5E-04 2.4E-04 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: 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: 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: rs199469636
rs199469636
KLHL3
2 0.925 0.120 5 137628305 missense variant C/T snv 0.700 0
dbSNP: rs199469643
rs199469643
KLHL3
2 0.925 0.120 5 137637323 missense variant C/T snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs199469644
rs199469644
KLHL3
1 1.000 0.120 5 137634077 stop gained C/T snv 0.700 0
dbSNP: rs199469648
rs199469648
KLHL3
1 1.000 0.120 5 137661914 splice donor variant C/T snv 0.700 0
dbSNP: rs199469654
rs199469654
CUL3
2 0.925 0.120 2 224503823 splice acceptor 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: rs199469647
rs199469647
KLHL3
1 1.000 0.120 5 137661947 frameshift variant G/- del 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