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: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.020 1.000 2 2002 2004
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs20551
rs20551
10 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 0.010 < 0.001 1 2015 2015
dbSNP: rs2071746
rs2071746
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2008 2008
dbSNP: rs4821480
rs4821480
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs774887459
rs774887459
4 0.882 0.080 22 40405776 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs57137919
rs57137919
9 0.776 0.160 21 42218908 intron variant G/A snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.020 1.000 2 2014 2019
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.020 1.000 2 2011 2016
dbSNP: rs1535045
rs1535045
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2144908
rs2144908
5 0.851 0.120 20 44357077 intron variant G/A snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2017 2017
dbSNP: rs867186
rs867186
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.030 1.000 3 1998 2000
dbSNP: rs116843064
rs116843064
16 0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02 0.030 1.000 3 2008 2009
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2005 2012
dbSNP: rs879254925
rs879254925
8 0.790 0.120 19 11113680 missense variant G/T snv 0.020 1.000 2 2010 2013
dbSNP: rs1122608
rs1122608
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs121918393
rs121918393
6 0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs1249040838
rs1249040838
5 0.827 0.120 19 11113699 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs140808909
rs140808909
5 0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05 0.010 1.000 1 1999 1999
dbSNP: rs1862513
rs1862513
11 0.763 0.360 19 7668907 upstream gene variant C/G;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2013 2013
dbSNP: rs267606661
rs267606661
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.010 1.000 1 1997 1997