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
29 0.638 0.607 5 132660272 missense variant A/G snp 0.72 0.75 0.810 1.000 3 2012 2015
dbSNP: rs1860661
rs1860661
1 1.000 0.107 19 1650135 intron variant A/C,G snp 6.7E-06; 0.54 0.55 0.810 1.000 1 2015 2015
dbSNP: rs3806624
rs3806624
2 0.923 0.179 3 27723132 intergenic variant A/G snp 0.60 0.810 1.000 1 2014 2014
dbSNP: rs7745098
rs7745098
3 1.000 0.107 6 135093866 intron variant C/G,T snp 0.63 0.810 1.000 1 2014 2014
dbSNP: rs6903608
rs6903608
7 0.784 0.321 6 32460508 intron variant C/G,T snp 0.67 0.800 4 2010 2015
dbSNP: rs2019960
rs2019960
2 0.923 0.143 8 128180025 intergenic variant T/C snp 0.25 0.800 3 2010 2015
dbSNP: rs2395185
rs2395185
12 0.756 0.321 6 32465390 intron variant G/T snp 0.27 0.800 2 2012 2014
dbSNP: rs501764
rs501764
1 1.000 0.107 10 8051071 non coding transcript exon variant G/T snp 0.87 0.86 0.800 2 2010 2014
dbSNP: rs1432295
rs1432295
1 1.000 0.107 2 60839531 intron variant G/A snp 0.67 0.800 1 2010 2010
dbSNP: rs2069757
rs2069757
1 1.000 0.107 5 132662721 intron variant G/A snp 7.7E-02 0.800 1 2015 2015
dbSNP: rs2248462
rs2248462
6 0.821 0.214 6 31479019 intergenic variant G/A snp 0.18 0.800 1 2012 2012
dbSNP: rs2608053
rs2608053
1 1.000 0.107 8 128063586 intron variant T/C snp 0.51 0.800 1 2010 2010
dbSNP: rs6439924
rs6439924
1 1.000 0.107 3 140450815 intron variant A/C snp 0.21 0.800 1 2015 2015
dbSNP: rs2734986
rs2734986
4 0.846 0.143 6 29850791 intergenic variant T/C snp 0.10 0.700 2 2012 2015
dbSNP: rs4459895
rs4459895
LPP
4 0.846 0.143 3 188236626 intron variant A/C snp 0.87 0.700 2 2017 2017
dbSNP: rs1046089
rs1046089
4 0.846 0.250 6 31635190 missense variant G/A snp 0.36 0.41 0.700 1 2014 2014
dbSNP: rs11715604
rs11715604
3 0.878 0.143 3 136870707 intron variant A/G,T snp 3.9E-05; 5.1E-04; 0.12 0.700 1 2017 2017
dbSNP: rs1244186
rs1244186
1 1.000 0.107 10 8050720 non coding transcript exon variant T/A,C snp 0.76 0.700 1 2014 2014
dbSNP: rs12638862
rs12638862
4 0.878 0.143 3 169759718 intergenic variant A/G snp 0.26 0.700 1 2017 2017
dbSNP: rs12711846
rs12711846
3 0.878 0.143 2 111098716 non coding transcript exon variant A/G snp 0.25 0.700 1 2017 2017
dbSNP: rs131821
rs131821
3 0.878 0.143 22 50511647 intron variant A/ATT,AT in-del 0.29; 9.2E-04; 8.7E-05; 2.2E-03 0.700 1 2017 2017
dbSNP: rs13195441
rs13195441
2 0.923 0.179 6 32775521 intergenic variant G/A snp 0.31 0.700 1 2014 2014
dbSNP: rs13255292
rs13255292
4 0.846 0.107 8 128064327 intron variant C/T snp 0.25 0.700 1 2014 2014
dbSNP: rs149207840
rs149207840
3 0.878 0.143 2 230279864 intron variant TCCTCCTG/T in-del 0.700 1 2017 2017
dbSNP: rs181181503
rs181181503
3 0.878 0.143 12 74276187 T/C snp 0.700 1 2017 2017