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: rs111033701
rs111033701
1 1.000 0.120 9 34647906 missense variant T/C snv 0.800 0
dbSNP: rs111033717
rs111033717
1 1.000 0.120 9 34648159 missense variant C/A snv 0.800 0
dbSNP: rs1057516720
rs1057516720
1 1.000 0.120 9 34648396 stop gained T/A snv 0.700 0
dbSNP: rs1057516883
rs1057516883
1 1.000 0.120 9 34648438 frameshift variant C/- delins 0.700 0
dbSNP: rs111033634
rs111033634
1 1.000 0.120 9 34646745 frameshift variant C/TT delins 0.700 0
dbSNP: rs111033639
rs111033639
1 1.000 0.120 9 34646705 start lost A/G snv 0.700 0
dbSNP: rs111033649
rs111033649
1 1.000 0.120 9 34647166 stop gained C/T snv 0.700 0
dbSNP: rs111033651
rs111033651
1 1.000 0.120 9 34647139 frameshift variant GCTCA/- delins 0.700 0
dbSNP: rs111033655
rs111033655
1 1.000 0.120 9 34647212 frameshift variant CCCTCTCA/- delins 0.700 0
dbSNP: rs111033656
rs111033656
1 1.000 0.120 9 34647203 missense variant C/A;T snv 3.2E-05 0.700 0
dbSNP: rs111033659
rs111033659
1 1.000 0.120 9 34647226 frameshift variant -/G ins 0.700 0
dbSNP: rs111033662
rs111033662
1 1.000 0.120 9 34647224 frameshift variant CT/- delins 0.700 0
dbSNP: rs111033668
rs111033668
1 1.000 0.120 9 34647524 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs111033676
rs111033676
1 1.000 0.120 9 34647661 frameshift variant -/A delins 0.700 0
dbSNP: rs111033681
rs111033681
1 1.000 0.120 9 34647706 splice donor variant G/A;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs111033684
rs111033684
1 1.000 0.120 9 34647846 missense variant T/G snv 0.700 0
dbSNP: rs111033689
rs111033689
1 1.000 0.120 9 34647854 frameshift variant T/- del 0.700 0
dbSNP: rs111033700
rs111033700
1 1.000 0.120 9 34647936 missense variant T/C snv 0.700 0
dbSNP: rs111033704
rs111033704
1 1.000 0.120 9 34647916 stop gained G/A snv 0.700 0
dbSNP: rs111033705
rs111033705
1 1.000 0.120 9 34647944 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs111033709
rs111033709
1 1.000 0.120 9 34647959 missense variant C/A snv 0.700 0
dbSNP: rs111033710
rs111033710
1 1.000 0.120 9 34647963 splice donor variant T/C snv 0.700 0
dbSNP: rs111033714
rs111033714
1 1.000 0.120 9 34648110 splice region variant G/C snv 0.700 0
dbSNP: rs111033716
rs111033716
1 1.000 0.120 9 34648157 missense variant C/G snv 0.700 0
dbSNP: rs111033719
rs111033719
1 1.000 0.120 9 34648135 frameshift variant -/G ins 0.700 0