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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2007 2009
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2009 2011
dbSNP: rs2695121
rs2695121
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.020 < 0.001 2 2013 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2007 2009
dbSNP: rs1157
rs1157
7 0.790 0.080 3 105576617 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs2486758
rs2486758
11 0.742 0.160 10 102837723 upstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs35463555
rs35463555
8 0.776 0.160 19 50374423 intron variant G/A snv 0.29 0.010 < 0.001 1 2013 2013
dbSNP: rs3808607
rs3808607
16 0.716 0.400 8 58500365 upstream gene variant G/T snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs3824260
rs3824260
11 0.742 0.160 8 58500631 upstream gene variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3834129
rs3834129
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2010 2010
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs4595552
rs4595552
7 0.790 0.080 11 125865825 intergenic variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4791171
rs4791171
11 0.763 0.080 17 65545379 intron variant T/C snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs6557634
rs6557634
11 0.763 0.080 8 23202743 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs7120118
rs7120118
18 0.716 0.360 11 47264739 intron variant T/C snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs763110
rs763110
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs7922612
rs7922612
14 0.752 0.080 10 94051682 intron variant C/T snv 0.39 0.010 < 0.001 1 2014 2014
dbSNP: rs909629195
rs909629195
7 0.790 0.080 17 38914448 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs951540403
rs951540403
7 0.790 0.080 10 94132433 missense variant G/C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008