Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10737416 | 1.000 | 0.040 | 1 | 224887055 | intergenic variant | C/A;T | snv | 1 | |||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs1129055 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 15 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1238539471 | 1.000 | 0.040 | 16 | 50710637 | synonymous variant | A/G | snv | 7.0E-06 | 2 | ||
rs1367967034 | 1.000 | 0.040 | 16 | 50707959 | splice region variant | A/G | snv | 4.0E-06 | 2 | ||
rs16910526 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 12 | ||
rs17114808 | 0.925 | 0.040 | 10 | 102631528 | 3 prime UTR variant | C/A;G;T | snv | 2 | |||
rs17582214 | 1.000 | 0.040 | 9 | 119676531 | regulatory region variant | A/G;T | snv | 1 | |||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1800797 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 43 | ||
rs2069727 | 0.763 | 0.320 | 12 | 68154443 | intron variant | T/A;C | snv | 9 | |||
rs2232365 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 16 | |||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs2278293 | 0.882 | 0.040 | 7 | 128400698 | non coding transcript exon variant | C/T | snv | 0.47 | 3 | ||
rs2278294 | 0.882 | 0.080 | 7 | 128400645 | non coding transcript exon variant | C/T | snv | 0.38 | 3 | ||
rs2302217 | 1.000 | 0.040 | 19 | 498524 | synonymous variant | A/C;G | snv | 1.6E-05; 0.51 | 1 | ||
rs2310241 | 1.000 | 0.040 | 2 | 102225489 | intron variant | A/C | snv | 0.44 | 1 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3004070 | 1.000 | 0.040 | 6 | 39902176 | 3 prime UTR variant | T/A | snv | 0.51 | 1 | ||
rs3092920 | 0.925 | 0.160 | X | 136661832 | downstream gene variant | G/T | snv | 0.23 | 2 | ||
rs3092936 | 1.000 | 0.040 | X | 136654046 | intron variant | T/C | snv | 8.9E-02 | 2 | ||
rs3092952 | 0.925 | 0.160 | X | 136644791 | upstream gene variant | A/G | snv | 0.29 | 3 | ||
rs337629 | 1.000 | 0.040 | 4 | 38633737 | intron variant | A/G;T | snv | 1 |