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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs7705526
rs7705526
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9271588
rs9271588
6 0.925 0.200 6 32623176 TF binding site variant T/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs1800961
rs1800961
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs635634
rs635634
22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1892534
rs1892534
7 0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs9977672
rs9977672
10 0.827 0.120 21 39091357 intergenic variant G/A snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs385893
rs385893
9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs4760
rs4760
8 1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11 0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716
MPO
6 1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs8179
rs8179
8 0.882 0.080 7 92606850 3 prime UTR variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6740847
rs6740847
8 0.925 0.040 2 181443625 intergenic variant A/G snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs10075801
rs10075801
5 5 132341949 intron variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10138752
rs10138752
5 14 68713254 intron variant C/T snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10173538
rs10173538
5 2 159712765 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10206089
rs10206089
4 2 61476184 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1025687
rs1025687
3 18 50621423 intron variant T/C snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10858740
rs10858740
5 12 88451258 intergenic variant A/G;T snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs10995477
rs10995477
4 10 63250912 intron variant T/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs111930700
rs111930700
4 12 51967869 intron variant C/G snv 8.4E-02 0.700 1.000 1 2016 2016