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: rs199469648
rs199469648
KLHL3
1 1.000 0.120 5 137661914 splice donor variant C/T 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: rs199469650
rs199469650
CUL3
2 0.925 0.120 2 224503848 non coding transcript exon variant T/C snv 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: rs199469652
rs199469652
CUL3
2 0.925 0.120 2 224503827 splice region variant A/T snv 0.700 0
dbSNP: rs199469653
rs199469653
CUL3
2 0.925 0.120 2 224503825 splice region variant G/A 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: rs199469656
rs199469656
CUL3
2 0.925 0.120 2 224503791 missense variant T/C snv 0.700 0
dbSNP: rs199469657
rs199469657
CUL3
1 1.000 0.120 2 224503648 splice donor variant CCTTTA/- delins 0.700 0
dbSNP: rs199469658
rs199469658
CUL3
2 0.925 0.120 2 224503653 missense variant T/C snv 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: 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