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: rs10947563
rs10947563
3 0.925 0.040 6 35685660 intron variant G/A snv 0.77 0.010 1.000 1 2016 2016
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: rs12701020
rs12701020
3 0.925 0.040 7 30655345 intron variant C/T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs3798347
rs3798347
3 0.925 0.040 6 35633999 intron variant A/T snv 0.65 0.010 1.000 1 2016 2016
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: rs12718541
rs12718541
2 0.925 0.080 7 50482446 intron variant A/G snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs4722999
rs4722999
5 0.851 0.080 7 30654159 intron variant C/T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2014 2014
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: rs12290811
rs12290811
3 0.882 0.120 11 79372576 intron variant T/A snv 0.18 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: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 < 0.001 1 2015 2015
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: rs175174
rs175174
3 0.882 0.120 22 20140031 non coding transcript exon variant A/G snv 0.44 0.010 1.000 1 2005 2005
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: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.010 1.000 1 2017 2017
dbSNP: rs2270637
rs2270637
3 0.882 0.120 8 20179316 missense variant C/G snv 0.20 0.21 0.010 1.000 1 2006 2006
dbSNP: rs2270641
rs2270641
3 0.882 0.120 8 20180955 missense variant T/C;G snv 0.32 0.010 1.000 1 2006 2006
dbSNP: rs2279709
rs2279709
5 0.882 0.120 8 20178722 intron variant T/G snv 0.51 0.010 1.000 1 2006 2006
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