Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs140226130 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 8 | ||
rs121918080 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 6 | ||
rs73956431 | 0.827 | 0.120 | 18 | 31699870 | regulatory region variant | C/T | snv | 8.4E-02 | 6 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 | ||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs8179090 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 12 | ||
rs9303504 | 0.925 | 0.040 | 17 | 66319248 | intron variant | G/C | snv | 0.59 | 2 | ||
rs9909004 | 0.925 | 0.040 | 17 | 66310015 | intron variant | C/T | snv | 0.59 | 2 | ||
rs767312316 | 1.000 | 0.040 | 17 | 82375046 | stop gained | C/A;G;T | snv | 6.6E-05; 1.7E-05; 1.7E-05 | 1 | ||
rs243866 | 0.827 | 0.120 | 16 | 55477625 | intron variant | G/A | snv | 0.19 | 8 | ||
rs2549513 | 0.851 | 0.080 | 16 | 79516830 | downstream gene variant | C/A;T | snv | 4 | |||
rs243864 | 0.925 | 0.080 | 16 | 55478410 | intron variant | T/G | snv | 0.19 | 3 | ||
rs17859821 | 1.000 | 0.040 | 16 | 55478141 | intron variant | G/A;C | snv | 0.11 | 2 | ||
rs1320702652 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 11 | ||
rs28714259 | 0.882 | 0.120 | 15 | 23463380 | intergenic variant | G/A | snv | 0.19 | 5 | ||
rs2073440 | 0.851 | 0.200 | 15 | 50242317 | missense variant | T/G | snv | 3.4E-02 | 5.9E-02 | 4 | |
rs17740607 | 0.925 | 0.160 | 15 | 50263347 | missense variant | G/A;C | snv | 8.5E-02; 4.0E-06 | 2 | ||
rs397516089 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 6 | |||
rs3212247 | 0.925 | 0.040 | 14 | 24340589 | upstream gene variant | A/G | snv | 0.12 | 2 | ||
rs3212254 | 0.925 | 0.040 | 14 | 24336257 | missense variant | G/A;T | snv | 1.2E-05; 7.3E-02 | 2 | ||
rs762151808 | 0.925 | 0.040 | 14 | 94378559 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1028728 | 0.925 | 0.040 | 13 | 37599679 | upstream gene variant | A/T | snv | 0.20 | 3 | ||
rs3829365 | 0.925 | 0.040 | 13 | 37598759 | 5 prime UTR variant | G/A;C | snv | 4.0E-06; 0.11 | 3 | ||
rs958546 | 0.882 | 0.040 | 13 | 46259582 | intron variant | G/C | snv | 0.29 | 3 |