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: rs1419338705
rs1419338705
ELN
1 1.000 0.040 7 74048163 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs782591769
rs782591769
ELN
1 1.000 0.040 7 74045237 missense variant G/C snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs2070584
rs2070584
8 0.790 0.200 X 47587120 intron variant T/G snv 0.44 0.010 1.000 1 2005 2005
dbSNP: rs326118
rs326118
2 0.925 0.080 5 7868430 intron variant T/G snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs61758388
rs61758388
4 0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs8003379
rs8003379
3 0.882 0.160 14 64406881 intron variant A/C snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2005 2010
dbSNP: rs2383207
rs2383207
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.800 1.000 1 2010 2010
dbSNP: rs2652106
rs2652106
1 1.000 0.040 5 83498217 intron variant G/T snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs7025486
rs7025486
4 0.851 0.040 9 121660124 intron variant G/A snv 0.28 0.810 1.000 1 2010 2010
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs1036095
rs1036095
1 1.000 0.040 3 30620836 intron variant C/G snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 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 2011 2011
dbSNP: rs5516
rs5516
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.010 1.000 1 2011 2011
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs764522
rs764522
3 0.882 0.080 3 30605058 upstream gene variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs201191171
rs201191171
2 0.925 0.080 20 46013279 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs773474756
rs773474756
2 0.925 0.080 11 102790467 missense variant T/C snv 8.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs3781590
rs3781590
1 1.000 0.040 11 68391684 intron variant G/A snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs4916251
rs4916251
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs4988300
rs4988300
2 0.925 0.120 11 68321363 intron variant G/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.040 0.750 4 2008 2014