Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17534202 1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40 6
rs218265 4 54542832 intergenic variant T/C snv 0.21 9
rs35259020 9 134085798 intergenic variant CT/- delins 0.18 3
rs35788208 5 154654616 intergenic variant C/T snv 7.4E-02 2
rs532398216 16 182398 downstream gene variant TGAG/- delins 2.0E-03 5
rs592423 6 139519556 intron variant A/C snv 0.50 5
rs737092 20 57415349 regulatory region variant T/C snv 0.58 6
rs875741 5 173860848 intergenic variant G/A;C snv 3
rs7412 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 20
rs2227930
ATR
3 142558733 synonymous variant A/T snv 0.55 0.63 2
rs706027 7 16660352 intron variant A/T snv 0.43 4
rs9487023 6 109268801 intron variant A/G snv 0.40 8
rs9349205 6 41957421 intron variant G/A;C snv 6
rs146771786 6 16285830 missense variant C/A snv 1.3E-03 1.3E-03 2
rs198851 6 26104404 downstream gene variant T/A;C;G snv 11
rs17476364
HK1
10 69334748 intron variant T/C snv 6.4E-02 8
rs6592965 7 50360284 intron variant G/A snv 0.47 4
rs754205 13 109759295 intron variant A/C;G snv 4
rs1434282 1 199041592 non coding transcript exon variant C/T snv 0.76 5
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 16
rs159058 20 32520305 intron variant A/C;T snv 4
rs6600233 16 93505 intron variant C/G;T snv 2
rs140522 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 10
rs8887 1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 6
rs113525195 14 23030112 intron variant C/A;T snv 2