Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs1143630 | 0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv | 5 | |||
rs1143633 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 11 | |||
rs1143643 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 10 | ||
rs11539752 | 0.882 | 0.120 | 14 | 24632383 | missense variant | G/C | snv | 0.21 | 0.26 | 6 | |
rs11581557 | 1.000 | 0.080 | 1 | 39862786 | intron variant | A/C;T | snv | 1 | |||
rs11600655 | 0.925 | 0.120 | 11 | 63606853 | intron variant | G/C | snv | 0.27 | 2 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs11671784 | 0.790 | 0.240 | 19 | 13836482 | non coding transcript exon variant | G/A | snv | 1.2E-02 | 1.2E-02 | 9 | |
rs116909374 | 0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 | 11 | ||
rs11730582 | 0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 | 10 | ||
rs1187825488 | 1.000 | 0.080 | 3 | 75737670 | frameshift variant | TT/- | del | 7.9E-04 | 1 | ||
rs11886868 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 12 | ||
rs11889031 | 1.000 | 0.080 | 2 | 203934671 | upstream gene variant | C/T | snv | 0.15 | 1 | ||
rs1190271 | 1.000 | 0.080 | 6 | 105176946 | intron variant | G/A;C | snv | 1 | |||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs12075 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 22 | |
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs121913364 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 34 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 17 | |||
rs1256054 | 0.882 | 0.120 | 14 | 64249595 | synonymous variant | G/C | snv | 2.8E-03 | 9.6E-04 | 3 |