Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1048369 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 4 | |
rs1327301 | 0.882 | 0.160 | X | 51467205 | downstream gene variant | C/T | snv | 0.29 | 3 | ||
rs5945572 | 0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv | 3 | |||
rs5945619 | 0.882 | 0.160 | X | 51498820 | non coding transcript exon variant | C/T | snv | 3 | |||
rs2267437 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 19 | |||
rs132770 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 14 | ||
rs5751129 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 14 | ||
rs132774 | 0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 | 9 | ||
rs2284063 | 0.851 | 0.160 | 22 | 38148291 | non coding transcript exon variant | A/G | snv | 0.40 | 4 | ||
rs5759167 | 0.851 | 0.160 | 22 | 43104206 | TF binding site variant | G/T | snv | 0.40 | 4 | ||
rs9623117 | 0.851 | 0.200 | 22 | 40056115 | intron variant | T/C | snv | 0.38 | 4 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs6010620 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 21 | |||
rs961253 | 0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 | 15 | ||
rs4809324 | 0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 | 7 | ||
rs910873 | 0.882 | 0.160 | 20 | 34583968 | intron variant | G/A;C | snv | 3 | |||
rs1407019 | 1.000 | 0.120 | 20 | 33237991 | intron variant | G/A | snv | 0.27 | 1 | ||
rs2752903 | 1.000 | 0.120 | 20 | 33235584 | upstream gene variant | T/C;G | snv | 0.33 | 1 | ||
rs750064 | 1.000 | 0.120 | 20 | 33235824 | upstream gene variant | T/A;C | snv | 1 | |||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 |