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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2014 2014
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: 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: rs12701020
rs12701020
3 0.925 0.040 7 30655345 intron variant C/T snv 0.12 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: rs1311223100
rs1311223100
2 0.925 0.120 8 20180955 frameshift variant T/- del 5.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2017 2017
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: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 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: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2007 2007
dbSNP: rs1705236
rs1705236
5 0.827 0.200 12 71151778 intron variant T/A snv 7.6E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs174576
rs174576
14 0.851 0.200 11 61836038 intron variant C/A;T snv 0.010 1.000 1 2018 2018
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: rs187269
rs187269
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2009 2009
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: rs2066713
rs2066713
9 0.807 0.200 17 30224647 intron variant G/A snv 0.34 0.010 < 0.001 1 2020 2020
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2015 2015
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: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2018 2018
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