Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1043210477 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 19 | |||
rs1048101 | 0.882 | 0.120 | 8 | 26770511 | missense variant | A/G | snv | 0.52 | 0.56 | 5 | |
rs11030104 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 8 | ||
rs11127292 | 0.925 | 0.160 | 2 | 2026171 | intron variant | C/T | snv | 0.11 | 2 | ||
rs1126858 | 1.000 | 0.080 | 4 | 76021932 | stop lost | A/G | snv | 2.9E-04 | 2.4E-04 | 1 | |
rs1129844 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 13 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs12273539 | 0.925 | 0.120 | 11 | 27661764 | intron variant | C/T | snv | 0.12 | 2 | ||
rs1314305899 | 0.807 | 0.280 | 7 | 151003224 | missense variant | C/T | snv | 7.9E-06 | 2.1E-05 | 6 | |
rs1383914 | 1.000 | 0.080 | 8 | 26865532 | 5 prime UTR variant | T/C | snv | 0.47 | 1 | ||
rs1719152 | 1.000 | 0.080 | 17 | 36105271 | missense variant | T/A | snv | 0.21 | 0.18 | 1 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800541 | 0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 | 5 | ||
rs2097903 | 1.000 | 0.080 | 7 | 10642782 | intron variant | A/T | snv | 0.51 | 1 | ||
rs224222 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 15 | |
rs2297518 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 29 | |
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs35699176 | 1.000 | 0.080 | 19 | 2936537 | stop gained | G/A | snv | 3.1E-02 | 3.4E-02 | 1 | |
rs375382379 | 0.882 | 0.160 | 5 | 143399792 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs3771863 | 0.925 | 0.240 | 2 | 75192588 | intron variant | C/T | snv | 0.30 | 2 | ||
rs4633 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 23 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs4818 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 27 | ||
rs550659379 | 0.882 | 0.160 | 5 | 143399780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 5 |