Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs13107325 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 34 | ||
rs17817449 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 21 | |||
rs523349 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 21 | ||
rs698 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 20 | ||
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs5569 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 19 | ||
rs1131445 | 0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv | 16 | |||
rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 | |||
rs110402 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 12 | |||
rs1137070 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 9 | ||
rs35385902 | 0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 | 9 | ||
rs686 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 9 | |||
rs130058 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 8 | |||
rs769540300 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 8 | ||
rs900418273 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 8 | |||
rs1042114 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 6 | ||
rs17037102 | 0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 | 6 | ||
rs29230 | 0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 | 6 | ||
rs10196867 | 0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv | 5 | |||
rs1039002 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 5 |