Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs1258159645 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 37 | ||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs8050136 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 32 | ||
rs10505477 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 31 | ||
rs9282861 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 31 | |||
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
rs2735940 | 0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 | 25 | ||
rs174537 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 23 | ||
rs4444235 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 23 | ||
rs17817449 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 21 | |||
rs597808 | 0.742 | 0.200 | 12 | 111535554 | intron variant | A/G | snv | 0.67 | 19 | ||
rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 18 | ||
rs10795668 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 17 | ||
rs4779584 | 0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 | 16 | ||
rs9929218 | 0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 | 16 | ||
rs1537372 | 0.752 | 0.120 | 9 | 22103184 | intron variant | G/A;T | snv | 14 |