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: rs1324694
rs1324694
2 0.925 0.120 10 100186688 upstream gene variant C/T snv 7.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs3917010
rs3917010
1 1.000 0.080 1 100725310 intron variant A/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs769665945
rs769665945
3 0.882 0.160 7 101137079 missense variant C/A;T snv 4.0E-06; 3.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs12316150
rs12316150
1 1.000 0.080 12 10159692 3 prime UTR variant A/T snv 7.4E-02 0.700 0
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.720 1.000 2 2003 2004
dbSNP: rs6218
rs6218
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs978458
rs978458
2 0.925 0.120 12 102408461 intron variant T/C snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs2072592
rs2072592
2 0.925 0.120 12 102419854 intron variant C/T snv 2.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs7956547
rs7956547
2 0.925 0.120 12 102465038 intron variant T/C snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs2162679
rs2162679
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2016 2016
dbSNP: rs635746
rs635746
1 1.000 0.080 11 102832897 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs1004467
rs1004467
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 1 2015 2015
dbSNP: rs569444
rs569444
3 0.925 0.120 11 102836574 non coding transcript exon variant G/A;T snv 0.12; 6.7E-06 0.10 0.010 1.000 1 2010 2010
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 1.000 2 2010 2016
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.040 0.750 4 2006 2018
dbSNP: rs572527200
rs572527200
4 0.882 0.240 11 102875064 upstream gene variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs12413409
rs12413409
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.020 1.000 2 2014 2015
dbSNP: rs2019090
rs2019090
1 1.000 0.080 11 103798234 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs539179964
rs539179964
3 0.882 0.080 8 104248720 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs2230808
rs2230808
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2004 2004