Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs9351963 | 6 | 73040138 | intron variant | A/C | snv | 0.19 | 1 | ||||
rs1057910 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 12 | ||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs1801265 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 13 | ||
rs138504221 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 9 | |
rs2032592 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 5 | ||
rs121918081 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 3 | |||
rs17376848 | 0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 | 3 | |
rs3758581 | 0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 | 3 | ||
rs201253747 | 1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 | 2 | ||
rs2151222 | 1 | 206480926 | intron variant | A/G | snv | 0.28 | 1 | ||||
rs6151627 | 5 | 80669717 | intron variant | A/G | snv | 0.23 | 1 | ||||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs2306283 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 16 | ||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs1555909961 | 1.000 | 0.080 | 21 | 18398320 | frameshift variant | AGTGC/- | del | 2 | |||
rs7548189 | 0.882 | 0.160 | 1 | 97402157 | intron variant | C/A | snv | 0.19 | 4 | ||
rs10474485 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 2 | ||
rs370244148 | 0.882 | 0.160 | 1 | 112514896 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 6 | ||
rs1458320839 | 2 | 219218640 | missense variant | C/A;T | snv | 1 | |||||
rs1042597 | 2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 | 3 | ||||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 |