Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6147150 | 0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins | 5 | |||
rs112193369 | 1.000 | 0.080 | 1 | 7498191 | intron variant | -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG | delins | 1 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs28360317 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 15 | ||
rs4646284 | 0.925 | 0.080 | 6 | 160160511 | downstream gene variant | -/G | delins | 0.31 | 2 | ||
rs200182588 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 6 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs60424486 | 1.000 | 0.080 | 7 | 15370686 | intron variant | -/TTTGAGAGGTGCCT | delins | 1 | |||
rs138731641 | 1.000 | 0.080 | 9 | 80614113 | intergenic variant | A/-;AA | delins | 2.9E-02 | 1 | ||
rs5799921 | 1.000 | 0.080 | 12 | 89766754 | intron variant | A/-;AA | delins | 1 | |||
rs2069762 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 23 | ||
rs1204382931 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 10 | ||
rs627928 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 10 | |
rs2410373 | 0.851 | 0.120 | 8 | 16066997 | intergenic variant | A/C | snv | 0.34 | 6 | ||
rs12500426 | 0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 | 5 | ||
rs1902023 | 0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 | 4 | |
rs3753793 | 0.851 | 0.240 | 1 | 85580205 | upstream gene variant | A/C | snv | 0.26 | 4 | ||
rs8004379 | 0.851 | 0.120 | 14 | 33599495 | intron variant | A/C | snv | 0.12 | 4 | ||
rs2394882 | 0.882 | 0.080 | 6 | 31164872 | splice region variant | A/C | snv | 0.64 | 0.69 | 3 | |
rs6983561 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 3 | ||
rs10761581 | 0.925 | 0.080 | 10 | 46027444 | missense variant | A/C | snv | 0.44 | 0.41 | 2 | |
rs10920531 | 0.925 | 0.080 | 1 | 202939708 | downstream gene variant | A/C | snv | 0.57 | 2 | ||
rs16834898 | 0.925 | 0.080 | 2 | 192772562 | intron variant | A/C | snv | 0.53 | 2 | ||
rs17886163 | 0.925 | 0.080 | 22 | 28695159 | missense variant | A/C | snv | 1.4E-03 | 5.4E-03 | 2 | |
rs3208008 | 0.925 | 0.080 | 20 | 63694757 | missense variant | A/C | snv | 0.75 | 0.81 | 2 |