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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.938 32 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.938 32 2004 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 11 2003 2015
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
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 0.100 0.800 10 1997 2004
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2004 2014
dbSNP: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.070 1.000 7 2008 2013
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.060 1.000 6 2012 2015
dbSNP: rs4939827
rs4939827
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.050 1.000 5 2008 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2005 2009
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.040 0.500 4 2003 2013
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.040 1.000 4 2015 2019
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 0.750 4 2005 2017
dbSNP: rs876658657
rs876658657
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.040 0.750 4 2008 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 0.667 3 2005 2010
dbSNP: rs909797662
rs909797662
8 0.790 0.120 7 55191837 missense variant G/A snv 0.030 1.000 3 2015 2018
dbSNP: rs1042821
rs1042821
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.020 1.000 2 2009 2009
dbSNP: rs10795668
rs10795668
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.020 1.000 2 2010 2013
dbSNP: rs10934578
rs10934578
4 0.925 0.080 3 122258435 intron variant G/T snv 0.30 0.020 1.000 2 2008 2017
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2011 2013
dbSNP: rs2555639
rs2555639
7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.020 1.000 2 2008 2013
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2012 2018
dbSNP: rs4464148
rs4464148
7 0.827 0.120 18 48932662 intron variant T/C snv 0.25 0.020 1.000 2 2009 2010
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2011 2016