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: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.810 1.000 3 2012 2014
dbSNP: rs1860661
rs1860661
3 0.882 0.120 19 1650135 intron variant A/C;G snv 6.7E-06; 0.54 0.810 1.000 1 2014 2014
dbSNP: rs6903608
rs6903608
11 0.742 0.400 6 32460508 intron variant C/G;T snv 0.800 1.000 4 2010 2014
dbSNP: rs2019960
rs2019960
2 0.925 0.160 8 128180025 intron variant T/C snv 0.27 0.800 1.000 3 2010 2014
dbSNP: rs1432295
rs1432295
1 1.000 0.120 2 60839531 intron variant G/A snv 0.69 0.800 1.000 2 2010 2013
dbSNP: rs2395185
rs2395185
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.800 1.000 2 2012 2013
dbSNP: rs501764
rs501764
1 1.000 0.120 10 8051071 non coding transcript exon variant G/T snv 0.87 0.86 0.800 1.000 2 2010 2013
dbSNP: rs2069757
rs2069757
1 1.000 0.120 5 132662721 intron variant G/A snv 7.5E-02 0.800 1.000 1 2014 2014
dbSNP: rs2248462
rs2248462
10 0.807 0.240 6 31479019 downstream gene variant G/A snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs2608053
rs2608053
1 1.000 0.120 8 128063586 intron variant T/C snv 0.50 0.800 1.000 1 2010 2010
dbSNP: rs3806624
rs3806624
2 0.925 0.200 3 27723132 upstream gene variant A/G snv 0.61 0.800 1.000 1 2013 2013
dbSNP: rs6439924
rs6439924
1 1.000 0.120 3 140450815 intron variant A/C snv 0.21 0.800 1.000 1 2014 2014
dbSNP: rs7745098
rs7745098
2 1.000 0.120 6 135093866 intron variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs649775
rs649775
3 0.882 0.120 6 33716536 upstream gene variant A/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs2734986
rs2734986
5 0.827 0.160 6 29850791 intron variant T/C snv 0.10 0.700 1.000 2 2012 2014
dbSNP: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 2 2017 2017
dbSNP: rs1002658
rs1002658
1 1.000 0.120 6 137660447 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs1046089
rs1046089
4 0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40 0.700 1.000 1 2013 2013
dbSNP: rs11715604
rs11715604
4 0.851 0.160 3 136870707 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1244186
rs1244186
1 1.000 0.120 10 8050720 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs12638862
rs12638862
10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs131821
rs131821
4 0.851 0.160 22 50511648 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs13195441
rs13195441
2 0.925 0.200 6 32775521 intergenic variant G/A snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs13255292
rs13255292
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013