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: rs12150220
rs12150220
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.020 1.000 2 2010 2017
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.020 0.500 2 2013 2013
dbSNP: rs10931481
rs10931481
5 0.827 0.240 2 191090126 intron variant G/A snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs13422767
rs13422767
FAP
3 0.882 0.120 2 162243749 intron variant G/A snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1896286
rs1896286
2 0.925 0.080 2 203967715 intergenic variant G/T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs2111485
rs2111485
17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs231726
rs231726
7 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2009 2009
dbSNP: rs3118470
rs3118470
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3136534
rs3136534
6 0.807 0.240 4 122448621 downstream gene variant T/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs3757247
rs3757247
5 0.827 0.320 6 90247744 intron variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs3827440
rs3827440
6 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2015 2015
dbSNP: rs4274624
rs4274624
2 0.925 0.080 2 191093930 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6473
rs6473
4 0.851 0.160 6 32041127 missense variant G/A;C snv 3.7E-04; 8.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2011 2011