Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12970291 | 0.763 | 0.120 | 18 | 75305279 | intergenic variant | G/A | snv | 2.8E-02 | 12 | ||
rs771432878 | 0.925 | 0.080 | 15 | 74723013 | missense variant | A/G | snv | 4.0E-06 | 3.5E-05 | 2 | |
rs1799814 | 0.807 | 0.160 | 15 | 74720646 | missense variant | G/A;T | snv | 1.6E-05; 3.1E-02 | 8 | ||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 48 | ||
rs117039649 | 0.925 | 0.080 | 12 | 68808776 | intron variant | G/C | snv | 2.3E-02 | 4 | ||
rs2298581 | 0.925 | 0.080 | 18 | 677931 | intron variant | C/G | snv | 0.22 | 2 | ||
rs1337082 | 0.925 | 0.080 | X | 67764173 | intergenic variant | G/A | snv | 0.61 | 2 | ||
rs2298583 | 0.925 | 0.080 | 18 | 677302 | intron variant | G/A | snv | 0.34 | 0.34 | 2 | |
rs10502289 | 0.925 | 0.080 | 18 | 676789 | intron variant | A/T | snv | 0.15 | 2 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1204038 | 0.882 | 0.160 | X | 67568383 | intron variant | G/A | snv | 0.36 | 3 | ||
rs6152 | 0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 | 9 | |
rs3819102 | 0.827 | 0.120 | 18 | 675307 | intron variant | A/G | snv | 4.5E-02 | 3.6E-02 | 8 | |
rs1156807933 | 0.925 | 0.080 | 14 | 65093799 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs3020449 | 0.807 | 0.200 | 14 | 64306674 | intron variant | A/G;T | snv | 10 | |||
rs1271572 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 16 | |||
rs1256049 | 0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 | 32 | |
rs944050 | 0.827 | 0.280 | 14 | 64233327 | splice region variant | T/C | snv | 9.5E-02 | 7.9E-02 | 5 | |
rs1255998 | 0.827 | 0.200 | 14 | 64227153 | 3 prime UTR variant | G/C;T | snv | 6 | |||
rs4980524 | 0.882 | 0.080 | 11 | 64191787 | intron variant | A/C;T | snv | 3 | |||
rs17782313 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 34 | ||
rs587780062 | 0.827 | 0.240 | 7 | 5995614 | stop gained | G/A;C | snv | 8.0E-06; 8.0E-05 | 8 | ||
rs889312 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 14 |