Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 18
rs4343
ACE
0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 14
rs4362
ACE
0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 9
rs147021911
FANCM
0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 9
rs144567652
FANCM
0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 8
rs200847762
ATF6B ; FKBPL
0.790 0.160 6 32129371 missense variant G/A snv 2.7E-04 1.4E-05 7
rs7194
HLA-DRA
0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 7
rs2477686
PLCH2
0.807 0.040 1 2461209 intron variant G/C snv 0.64 7
rs3129878
HLA-DRA
0.807 0.360 6 32440958 intron variant A/C snv 0.30 6
rs12614
CYP21A2 ; CFB
0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 5
rs6080550
LOC100289473
0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 5
rs10842262
SOX5
0.851 0.040 12 24031610 intron variant G/C snv 0.43 5
rs12097821 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 4
rs7226979
BCL2
0.925 0.120 18 63257737 intron variant C/T snv 0.42 3
rs498422
TSBP1 ; TSBP1-AS1
0.882 0.160 6 32318984 intron variant T/G snv 0.14 3
rs140506267
DMRT1
0.925 0.040 9 894044 missense variant A/G snv 2.7E-03 1.3E-03 2
rs121908940
DNMT3B
0.925 0.120 20 32807793 missense variant G/A;T snv 2.8E-05; 1.2E-05 2
rs718772
HORMAD2
0.925 0.120 22 30108218 intron variant A/C;G snv 2
rs10248566 1.000 0.040 7 91638848 non coding transcript exon variant G/C snv 0.25 1
rs11937871 1.000 0.040 4 103871299 upstream gene variant C/T snv 0.27 1
rs12429186 1.000 0.040 13 33718141 regulatory region variant T/C snv 2.7E-02 1
rs2501443 1.000 0.040 7 122902383 intergenic variant A/G snv 0.47 1
rs253296 1.000 0.040 5 150573187 intergenic variant G/A snv 0.28 1
rs312620 1.000 0.040 5 143980913 intergenic variant T/A snv 4.2E-02 1