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: rs2073162
rs2073162
2 1.000 0.080 X 100594020 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2007 2007
dbSNP: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.020 0.500 2 2001 2003
dbSNP: rs886205
rs886205
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs2278426
rs2278426
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.010 1.000 1 2019 2019
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.040 0.750 4 2006 2017
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.030 1.000 3 2006 2011
dbSNP: rs2293855
rs2293855
5 0.851 0.120 8 11319901 non coding transcript exon variant G/A snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1799999
rs1799999
4 0.882 0.160 7 113878379 missense variant C/A snv 0.22 0.17 0.010 < 0.001 1 2000 2000
dbSNP: rs3813929
rs3813929
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs78655421
rs78655421
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs75527207
rs75527207
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2009 2009
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 2011 2011
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 1999 1999
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs2920502
rs2920502
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 1.000 4 2000 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2000 2012
dbSNP: rs72551362
rs72551362
4 0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs2233580
rs2233580
5 0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs13283456
rs13283456
3 0.925 0.080 9 128122474 missense variant C/A;T snv 4.0E-06; 0.13 0.010 1.000 1 2007 2007
dbSNP: rs997509
rs997509
6 0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02 0.010 1.000 1 2009 2009