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: rs10083466
rs10083466
1 1.000 0.040 14 79518375 intron variant C/A snv 0.39 0.010 1.000 1 2013 2013
dbSNP: rs113507694
rs113507694
1 1.000 0.040 12 7714013 intron variant A/G snv 3.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs4713902
rs4713902
1 1.000 0.040 6 35646249 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs9470079
rs9470079
1 1.000 0.040 6 35675286 intron variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11199993
rs11199993
2 0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1128306
rs1128306
2 0.925 0.120 6 29975492 non coding transcript exon variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs12718541
rs12718541
2 0.925 0.080 7 50482446 intron variant A/G snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs1311223100
rs1311223100
2 0.925 0.120 8 20180955 frameshift variant T/- del 5.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs1497020
rs1497020
2 0.925 0.120 8 20144915 3 prime UTR variant G/A snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1610037
rs1610037
2 0.925 0.120 18 910634 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs1938516
rs1938516
2 0.925 0.120 1 187433789 intron variant T/A snv 5.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2284017
rs2284017
2 0.925 0.120 22 36700882 intron variant T/C snv 0.44 0.010 1.000 1 2008 2008
dbSNP: rs2284018
rs2284018
2 0.925 0.120 22 36701519 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs29066
rs29066
2 0.925 0.120 18 9959638 3 prime UTR variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs29067
rs29067
2 0.925 0.120 18 9957921 3 prime UTR variant T/G snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs3735835
rs3735835
2 0.925 0.120 8 20164494 intron variant G/C snv 0.38 0.010 1.000 1 2006 2006
dbSNP: rs3786285
rs3786285
2 0.925 0.120 18 12008848 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs3974590
rs3974590
2 0.925 0.120 18 11892846 intron variant A/G snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs41084
rs41084
2 0.925 0.120 5 156118554 intron variant A/T snv 0.45 0.010 1.000 1 2009 2009
dbSNP: rs4760816
rs4760816
2 0.925 0.120 12 71978821 intron variant C/T snv 0.58 0.010 < 0.001 1 2015 2015
dbSNP: rs5750285
rs5750285
2 0.925 0.120 22 36708203 intron variant C/G snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs593713
rs593713
2 0.925 0.120 18 11887658 intron variant G/A snv 0.42 0.010 1.000 1 2010 2010
dbSNP: rs602201
rs602201
2 0.925 0.120 18 11882269 3 prime UTR variant T/A snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs613993
rs613993
2 0.925 0.120 18 12028581 non coding transcript exon variant A/G snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs6413429
rs6413429
2 0.925 0.120 5 1446912 upstream gene variant C/A snv 6.1E-02 0.010 1.000 1 2015 2015