Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs848 | 0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 | 8 | ||
rs1137100 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 39 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1295685 | 0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 | 7 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs3021097 | 0.752 | 0.440 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 10 | |||
rs72661131 | 0.742 | 0.480 | 10 | 52771739 | upstream gene variant | A/G | snv | 7.6E-04 | 15 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs512625 | 0.925 | 0.120 | 20 | 3667731 | upstream gene variant | A/G;T | snv | 2 | |||
rs5743293 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 7 | |||
rs11236797 | 0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 | 8 | ||
rs1847472 | 0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 | 7 | ||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs528557 | 0.827 | 0.120 | 20 | 3671095 | synonymous variant | C/A;G | snv | 4.7E-06; 0.29 | 6 | ||
rs10036748 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 11 | |||
rs10758669 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 10 | |||
rs11221332 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 13 | |||
rs2787094 | 0.851 | 0.160 | 20 | 3668514 | 3 prime UTR variant | C/G | snv | 0.71 | 4 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs4129267 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 13 | |||
rs11065979 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 12 |