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: rs4444235
rs4444235
23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.050 1.000 5 2012 2019
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.020 1.000 2 2010 2015
dbSNP: rs4779584
rs4779584
16 0.732 0.160 15 32702555 intergenic variant T/C snv 0.67 0.020 1.000 2 2014 2015
dbSNP: rs6687758
rs6687758
11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.020 1.000 2 2012 2018
dbSNP: rs719725
rs719725
7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.020 0.500 2 2010 2011
dbSNP: rs10090154
rs10090154
7 0.807 0.160 8 127519892 intergenic variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1088967
rs1088967
4 0.851 0.080 X 127010099 intergenic variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1194338
rs1194338
3 0.925 0.080 11 65493967 upstream gene variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12413624
rs12413624
5 0.851 0.120 10 118519432 intergenic variant T/A snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs1321311
rs1321311
15 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1535989
rs1535989
4 0.925 0.080 13 105370372 intergenic variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs180040
rs180040
3 0.882 0.120 15 97027933 intergenic variant T/C snv 0.85 0.010 1.000 1 2014 2014
dbSNP: rs1924966
rs1924966
6 0.807 0.080 13 72432915 intergenic variant T/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs2555639
rs2555639
7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs2808630
rs2808630
13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 1.000 1 2019 2019
dbSNP: rs2965667
rs2965667
10 0.776 0.080 12 17291799 intergenic variant A/T snv 0.96 0.010 1.000 1 2015 2015
dbSNP: rs4242382
rs4242382
9 0.763 0.240 8 127505328 intergenic variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6691170
rs6691170
12 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs6854845
rs6854845
6 0.827 0.080 4 74821455 intergenic variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs7163702
rs7163702
2 0.925 0.080 15 28460135 upstream gene variant C/A snv 0.010 1.000 1 2012 2012
dbSNP: rs722025
rs722025
2 0.925 0.080 5 8107899 intergenic variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs823920
rs823920
2 0.925 0.080 9 101900303 intergenic variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.833 6 2008 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2008 2013
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2009 2013