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: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 1.000 3 2011 2015
dbSNP: rs2230500
rs2230500
5 0.925 0.080 14 61457521 missense variant G/A snv 3.1E-02 1.6E-02 0.720 1.000 3 2007 2014
dbSNP: rs2383207
rs2383207
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.030 1.000 3 2009 2018
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2012 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 1.000 3 2014 2017
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.030 1.000 3 2001 2008
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.030 1.000 3 2009 2014
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.030 1.000 3 2013 2017
dbSNP: rs556621
rs556621
2 1.000 6 44626422 intergenic variant T/G snv 0.73 0.820 1.000 3 2012 2017
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.030 1.000 3 2011 2014
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 1.000 3 1999 2016
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2002 2007
dbSNP: rs104894845
rs104894845
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.020 1.000 2 2010 2016
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2012 2016
dbSNP: rs1122608
rs1122608
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.710 1.000 2 2014 2014
dbSNP: rs11237379
rs11237379
2 1.000 0.080 11 78074911 intron variant T/C snv 0.38 0.020 1.000 2 2016 2019
dbSNP: rs112735431
rs112735431
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs12204590
rs12204590
3 1.000 0.080 6 1337158 intergenic variant T/A snv 0.14 0.720 1.000 2 2016 2017
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 < 0.001 2 2016 2019
dbSNP: rs1243188371
rs1243188371
2 1.000 0.160 11 27674117 synonymous variant C/T snv 4.1E-06 7.0E-06 0.020 1.000 2 2012 2014
dbSNP: rs1333040
rs1333040
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 0.500 2 2012 2013
dbSNP: rs16851055
rs16851055
1 3 141080371 non coding transcript exon variant G/A snv 0.26 0.800 1.000 2 2012 2014
dbSNP: rs17611
rs17611
C5
14 0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36 0.020 1.000 2 2012 2016
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.020 1.000 2 2011 2016
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 0.500 2 2000 2014