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: rs1060499679
rs1060499679
5 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
dbSNP: rs1060503383
rs1060503383
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs112543062
rs112543062
6 0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 0.700 0
dbSNP: rs1553510492
rs1553510492
4 2 161419040 missense variant A/G snv 0.700 0
dbSNP: rs1554121671
rs1554121671
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1554776954
rs1554776954
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs1555103646
rs1555103646
4 1.000 0.040 12 13569964 missense variant C/A snv 0.700 0
dbSNP: rs1555103652
rs1555103652
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs1555462347
rs1555462347
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1561515242
rs1561515242
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs1569355102
rs1569355102
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
dbSNP: rs370717845
rs370717845
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs587784177
rs587784177
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs72653772
rs72653772
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs886041097
rs886041097
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs2066713
rs2066713
9 0.807 0.200 17 30224647 intron variant G/A snv 0.34 0.010 < 0.001 1 2020 2020
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs4251417
rs4251417
7 0.827 0.200 17 30224840 intron variant C/T snv 6.8E-02 0.010 < 0.001 1 2020 2020
dbSNP: rs6354
rs6354
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 < 0.001 1 2020 2020
dbSNP: rs7224199
rs7224199
7 0.827 0.160 17 30196708 3 prime UTR variant G/T snv 0.49 0.010 < 0.001 1 2020 2020
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.050 0.200 5 2007 2020
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2006 2011