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: rs121918657
rs121918657
2 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs149718203
rs149718203
2 0.925 0.120 10 99727098 stop gained G/C snv 2.5E-04 2.9E-04 0.700 0
dbSNP: rs104894557
rs104894557
2 0.925 0.120 17 14206888 missense variant A/G;T snv 8.0E-05 0.700 0
dbSNP: rs121918658
rs121918658
2 0.925 0.120 9 133352074 missense variant A/C snv 0.700 0
dbSNP: rs28933402
rs28933402
2 0.925 0.120 9 133353893 missense variant C/T snv 0.700 0
dbSNP: rs28939711
rs28939711
5 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs397514662
rs397514662
4 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.700 0
dbSNP: rs398122806
rs398122806
2 0.925 0.120 9 133352518 missense variant A/G snv 0.700 0
dbSNP: rs782316919
rs782316919
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
dbSNP: rs782490558
rs782490558
3 0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 0.700 0
dbSNP: rs863224228
rs863224228
3 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 0
dbSNP: rs387906383
rs387906383
1 1.000 0.120 17 14069607 start lost T/C snv 0.700 0