Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6330 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 12 | |
rs2266780 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 9 | |
rs4845625 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 9 | ||
rs880315 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 9 | ||
rs67608943 | 0.851 | 0.080 | 1 | 55046549 | stop gained | C/G;T | snv | 1.9E-04 | 8 | ||
rs9333025 | 0.851 | 0.200 | 1 | 46931231 | intron variant | C/T | snv | 9.4E-02 | 8 | ||
rs1255283120 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs2266782 | 0.851 | 0.200 | 1 | 171107825 | missense variant | G/A | snv | 0.37 | 0.41 | 7 | |
rs587745372 | 0.851 | 0.240 | 1 | 147773383 | upstream gene variant | T/A | snv | 2.8E-05 | 7 | ||
rs3783613 | 0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 6 | ||
rs4846914 | 0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 | 6 | ||
rs750046020 | 0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 | 6 | ||
rs17114036 | 0.851 | 0.120 | 1 | 56497149 | intron variant | A/G | snv | 0.11 | 5 | ||
rs3093075 | 0.882 | 0.120 | 1 | 159710123 | upstream gene variant | G/T | snv | 0.13 | 5 | ||
rs371237692 | 0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 | 5 | |
rs12130333 | 1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 | 4 | ||
rs161810 | 0.925 | 0.120 | 1 | 7940737 | intron variant | T/C | snv | 0.13 | 4 | ||
rs1052053 | 1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 | 3 | ||
rs1324214 | 0.925 | 0.120 | 1 | 94531732 | intron variant | G/A | snv | 0.21 | 3 | ||
rs12037987 | 1 | 112500200 | intron variant | T/C | snv | 8.6E-02 | 2 | ||||
rs12122341 | 1.000 | 0.080 | 1 | 115113069 | regulatory region variant | C/G | snv | 0.19 | 2 | ||
rs147270785 | 1.000 | 0.080 | 1 | 11046616 | missense variant | G/A | snv | 6.5E-04 | 6.4E-04 | 2 | |
rs2271347 | 1.000 | 0.080 | 1 | 226361797 | non coding transcript exon variant | G/A | snv | 0.16 | 2 | ||
rs11240065 | 1 | 147468451 | intron variant | T/C | snv | 1 | |||||
rs148158062 | 1 | 147468451 | intron variant | -/GTTCCTTC | delins | 1 |