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: rs104886033
rs104886033
10 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
dbSNP: rs1057518813
rs1057518813
8 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057518907
rs1057518907
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs113993970
rs113993970
5 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1345176461
rs1345176461
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1554107200
rs1554107200
4 0.851 0.120 5 140679127 missense variant C/A snv 0.700 0
dbSNP: rs1558027212
rs1558027212
7 0.827 0.320 1 165728096 frameshift variant GC/- del 0.700 0
dbSNP: rs1566823361
rs1566823361
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs267606670
rs267606670
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs372445155
rs372445155
7 0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs387906686
rs387906686
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs587777630
rs587777630
16 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
dbSNP: rs587784105
rs587784105
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
dbSNP: rs750331613
rs750331613
5 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 0.700 0
dbSNP: rs771063992
rs771063992
7 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs797044849
rs797044849
17 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs80338903
rs80338903
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs80358257
rs80358257
8 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
dbSNP: rs876660634
rs876660634
10 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
dbSNP: rs886039469
rs886039469
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 < 0.001 1 2016 2016
dbSNP: rs10447760
rs10447760
4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 < 0.001 1 2019 2019