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: rs2075685
rs2075685
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.020 1.000 2 2006 2012
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2012 2018
dbSNP: rs35385902
rs35385902
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2009 2010
dbSNP: rs3790843
rs3790843
7 0.827 0.160 1 200041696 intron variant C/T snv 0.29 0.020 1.000 2 2015 2018
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2008 2011
dbSNP: rs762581936
rs762581936
5 0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05 0.020 1.000 2 2012 2015
dbSNP: rs766333007
rs766333007
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs10165970
rs10165970
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1034925236
rs1034925236
2 0.925 0.120 1 200048258 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1042821
rs1042821
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs104894094
rs104894094
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2004 2004
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1049074086
rs1049074086
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs10500715
rs10500715
2 0.925 0.120 11 9951515 intron variant T/G snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs10519097
rs10519097
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1053005
rs1053005
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs10887710
rs10887710
2 0.925 0.120 10 80270029 downstream gene variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11039149
rs11039149
6 0.827 0.280 11 47255124 intron variant A/G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs11085754
rs11085754
2 0.925 0.120 19 11017920 intron variant A/G snv 0.41 0.010 1.000 1 2015 2015