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 2014 2014
dbSNP: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs2072472
rs2072472
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2094258
rs2094258
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2296147
rs2296147
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs873601
rs873601
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs861530
rs861530
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2011 2011
dbSNP: rs1805329
rs1805329
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2009 2009
dbSNP: rs3787016
rs3787016
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 1.000 2 2015 2019
dbSNP: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10953615
rs10953615
1 1.000 0.080 7 109512654 intergenic variant A/G snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2013 2018
dbSNP: rs201745983
rs201745983
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2010 2010
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.080 1.000 8 2001 2019
dbSNP: rs4767364
rs4767364
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.010 1.000 1 1999 1999
dbSNP: rs315919
rs315919
5 0.851 0.120 2 113118636 intron variant T/G snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs3181052
rs3181052
5 0.851 0.120 2 113128472 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs452204
rs452204
7 0.807 0.200 2 113131484 intron variant G/A snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs9841504
rs9841504
7 0.827 0.120 3 114643917 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2013 2013