Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200748388 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 1 | ||||
rs2151222 | 1 | 206480926 | intron variant | A/G | snv | 0.28 | 1 | ||||
rs33013 | 5 | 80764197 | intron variant | G/A | snv | 0.35 | 1 | ||||
rs6151627 | 5 | 80669717 | intron variant | A/G | snv | 0.23 | 1 | ||||
rs769107320 | 4 | 69108277 | missense variant | G/A;C | snv | 1 | |||||
rs8111874 | 19 | 48665685 | intron variant | G/A | snv | 0.32 | 1 | ||||
rs9351963 | 6 | 73040138 | intron variant | A/C | snv | 0.19 | 1 | ||||
rs1360182594 | 1 | 11790755 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||||
rs745614189 | 7 | 87549387 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||||
rs1448674651 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 23 | ||
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1042597 | 2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 | 3 | ||||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs1057910 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 12 | ||
rs1801019 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 4 | ||
rs2244613 | 0.882 | 0.120 | 16 | 55810697 | intron variant | G/A;T | snv | 8.0E-06; 0.73 | 4 | ||
rs1050274678 | 0.925 | 0.040 | 21 | 45530803 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 3 | |
rs370244148 | 0.882 | 0.160 | 1 | 112514896 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 6 | ||
rs529855742 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 15 | |
rs142110773 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 13 | |
rs546983534 | 14 | 103708630 | missense variant | G/A | snv | 2.8E-05 | 1 | ||||
rs138504221 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 9 | |
rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 11 | |
rs67376798 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 9 | |
rs56038477 | 1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 | 1 |