Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs780094 0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs17782313 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 34
rs4148323 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 22
rs143383 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 17
rs143384 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 17
rs3734254 0.752 0.240 6 35427233 3 prime UTR variant C/T snv 0.69 14
rs6570507 0.827 0.240 6 142358435 intron variant G/A snv 0.47 13
rs864745 0.763 0.320 7 28140937 intron variant T/C snv 0.41 12
rs3791679 0.925 0.120 2 55869757 intron variant A/G snv 0.20 11
rs2247056 0.882 0.160 6 31297713 intron variant T/C snv 0.80 11
rs2516448 0.827 0.120 6 31422633 intron variant T/C;G snv 10
rs185819 0.851 0.200 6 32082290 missense variant T/A;C;G snv 8.2E-06; 0.58; 4.1E-06 10
rs11205303 0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 9
rs2145272 20 6645571 intergenic variant G/A;T snv 8
rs1182188 0.827 0.120 7 2830351 intron variant T/C snv 0.26 8
rs35874463 0.827 0.120 15 67165360 missense variant A/G snv 4.0E-02 3.4E-02 8
rs13437082 1.000 6 31386783 upstream gene variant C/T snv 0.32 7
rs202676 0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33 7
rs7689420 0.851 0.080 4 144647200 non coding transcript exon variant T/C snv 0.79 7
rs1042725 0.882 0.080 12 65964567 3 prime UTR variant C/T snv 0.48 7
rs8756 0.882 0.200 12 65965972 3 prime UTR variant C/A snv 0.56 7
rs6569648 1.000 0.080 6 130027974 intron variant C/T snv 0.84 7
rs7759938 0.925 0.120 6 104931079 intron variant C/T snv 0.62 7
rs5742915
PML
0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06 7
rs17391694 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 6