Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1131017 | 0.925 | 0.160 | 12 | 56042145 | 5 prime UTR variant | C/A;G;T | snv | 8.0E-06; 8.0E-06; 0.62; 1.1E-04 | 5 | ||
rs6422747 | 1.000 | 0.120 | 6 | 169229688 | intron variant | G/A | snv | 0.61 | 0.68 | 2 | |
rs1126667 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 8 | |
rs2256965 | 0.925 | 0.200 | 6 | 31587353 | non coding transcript exon variant | A/G;T | snv | 0.60 | 2 | ||
rs272893 | 0.925 | 0.160 | 5 | 132327369 | missense variant | T/C;G | snv | 0.58; 4.0E-06 | 2 | ||
rs713041 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 16 | ||
rs185819 | 0.851 | 0.200 | 6 | 32082290 | missense variant | T/A;C;G | snv | 8.2E-06; 0.58; 4.1E-06 | 10 | ||
rs1573649 | 1.000 | 0.120 | 6 | 32763481 | 5 prime UTR variant | G/A;C | snv | 0.56 | 1 | ||
rs237025 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 26 | |
rs734312 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 10 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs9268831 | 0.851 | 0.280 | 6 | 32459971 | non coding transcript exon variant | C/T | snv | 0.54 | 0.51 | 4 | |
rs2407992 | 0.882 | 0.200 | X | 12920993 | synonymous variant | G/A;C | snv | 0.54 | 4 | ||
rs1884444 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 34 | |
rs763361 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 21 | ||
rs1445898 | 1.000 | 0.120 | 5 | 35910427 | missense variant | C/T | snv | 0.51 | 0.42 | 1 | |
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs2239804 | 0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 | 5 | ||
rs1052486 | 0.851 | 0.200 | 6 | 31642909 | missense variant | A/G | snv | 0.51 | 0.44 | 4 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 33 | |
rs10770125 | 0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 | 4 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 |