Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs1056827 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 24 | |
rs11685387 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 9 | ||
rs9288518 | 0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 | 9 | ||
rs11892031 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 5 | |||
rs17863783 | 0.827 | 0.200 | 2 | 233693631 | synonymous variant | G/T | snv | 3.8E-02 | 5.5E-02 | 5 | |
rs715021 | 0.882 | 0.120 | 2 | 221196620 | intergenic variant | C/G | snv | 0.26 | 3 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
rs1043210477 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 19 | |||
rs6443624 | 0.776 | 0.200 | 3 | 179179886 | intron variant | C/A | snv | 0.30 | 8 | ||
rs125701 | 0.790 | 0.160 | 3 | 9748794 | upstream gene variant | G/A | snv | 0.13 | 7 | ||
rs1208415127 | 0.827 | 0.160 | 3 | 50331654 | missense variant | G/A | snv | 4.0E-06 | 6 | ||
rs2293607 | 0.807 | 0.200 | 3 | 169764547 | non coding transcript exon variant | T/A;C | snv | 6 | |||
rs35592567 | 0.827 | 0.160 | 3 | 189896847 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs754554026 | 0.827 | 0.160 | 3 | 37028864 | missense variant | G/A;C | snv | 2.8E-05 | 7.0E-06 | 5 | |
rs710521 | 0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 | 4 |