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 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
rs746682028 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 36 | ||
rs6010620 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 21 | |||
rs555743307 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 20 | ||
rs1800972 | 0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 | 16 | ||
rs1893592 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 12 | ||
rs1805011 | 0.776 | 0.320 | 16 | 27362551 | missense variant | A/C;G;T | snv | 0.13; 1.2E-04; 3.6E-05 | 8 | ||
rs1295686 | 0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 | 7 | ||
rs138726443 | 0.790 | 0.200 | 1 | 152307547 | stop gained | G/A;C;T | snv | 2.8E-03; 4.0E-06; 1.6E-05 | 7 | ||
rs893051 | 0.807 | 0.400 | 3 | 190321812 | intron variant | G/A;C | snv | 7 | |||
rs10249788 | 0.827 | 0.160 | 7 | 17298523 | intron variant | C/G;T | snv | 6 | |||
rs12211410 | 0.925 | 0.120 | 6 | 32081646 | missense variant | C/G;T | snv | 5.6E-05; 7.7E-02; 3.7E-05 | 5 | ||
rs150597413 | 0.827 | 0.160 | 1 | 152305146 | stop gained | G/A;C;T | snv | 3.6E-05; 4.0E-06; 1.5E-03 | 5 | ||
rs1555525115 | 0.851 | 0.360 | 16 | 89279567 | frameshift variant | GGCTTCGG/- | delins | 5 | |||
rs941934 | 0.851 | 0.200 | 1 | 152417976 | intron variant | T/A;C | snv | 5 | |||
rs1057518775 | 0.851 | 0.160 | 11 | 17387907 | missense variant | G/A;C | snv | 4 | |||
rs121909626 | 0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 | 4 | ||
rs146466242 | 0.851 | 0.120 | 1 | 152302822 | stop gained | T/A;C | snv | 1.4E-03; 8.0E-06 | 4 | ||
rs320995 | 0.851 | 0.240 | X | 78272820 | missense variant | G/A;C;T | snv | 0.73 | 4 |