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: rs4595552
rs4595552
7 0.790 0.080 11 125865825 intergenic variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
dbSNP: rs2234767
rs2234767
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2014 2014
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: rs13959
rs13959
7 0.790 0.080 9 72930966 synonymous variant G/A snv 0.48 0.42 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: rs4791171
rs4791171
11 0.763 0.080 17 65545379 intron variant T/C snv 0.55 0.010 1.000 1 2016 2016
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: 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: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 0.667 3 2007 2014
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: 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: rs1126497
rs1126497
14 0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58 0.010 1.000 1 2016 2016
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: rs1444424830
rs1444424830
7 0.790 0.080 7 151078923 missense variant C/T snv 4.6E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2010 2010
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: rs909629195
rs909629195
7 0.790 0.080 17 38914448 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2010 2010
dbSNP: rs17577
rs17577
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs2303426
rs2303426
8 0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47 0.010 1.000 1 2011 2011
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