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: rs2228612
rs2228612
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs2186607
rs2186607
10 0.776 0.080 11 101785666 intron variant T/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs230490
rs230490
3 0.882 0.080 4 102466262 downstream gene variant G/A snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs4648110
rs4648110
3 0.925 0.080 4 102612664 intron variant T/A snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs997476
rs997476
3 0.882 0.080 4 102620848 downstream gene variant G/T snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs4450168
rs4450168
9 0.790 0.080 11 10265208 intron variant A/C;T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs750521832
rs750521832
14 0.732 0.200 11 102718452 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4919687
rs4919687
14 0.742 0.160 10 102835491 non coding transcript exon variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs12548629
rs12548629
10 0.776 0.120 8 103189173 intron variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs7911488
rs7911488
3 0.882 0.080 10 103394332 5 prime UTR variant A/G snv 0.34 0.26 0.010 1.000 1 2017 2017
dbSNP: rs141752671
rs141752671
17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465
17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs4135113
rs4135113
TDG
5 0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs2302615
rs2302615
7 0.807 0.120 2 10448012 intron variant C/T snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs17035289
rs17035289
9 0.790 0.080 4 105127134 intergenic variant T/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs17035310
rs17035310
10 0.790 0.080 4 105143597 upstream gene variant C/T snv 0.14 0.700 1.000 1 2015 2015
dbSNP: rs1391441
rs1391441
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs6928864
rs6928864
9 0.790 0.080 6 105519019 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1512436
rs1512436
10 0.790 0.080 11 106436144 intergenic variant T/C snv 0.50 0.700 1.000 1 2015 2015
dbSNP: rs1383147053
rs1383147053
DLD
4 0.882 0.120 7 107901762 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1078643
rs1078643
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 3 2019 2019
dbSNP: rs1364898025
rs1364898025
ATM
3 0.925 0.080 11 108227656 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs9583269
rs9583269
9 0.790 0.080 13 108630682 intron variant C/T snv 0.34 0.700 1.000 1 2017 2017