Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12785878 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 25 | |||
rs7961581 | 0.827 | 0.200 | 12 | 71269322 | intron variant | C/T | snv | 0.75 | 7 | ||
rs1181860747 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 10 | |||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs4607103 | 0.882 | 0.120 | 3 | 64726228 | intron variant | C/T | snv | 0.28 | 4 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs174547 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 33 | ||
rs1063856 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 14 | ||
rs261332 | 0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 | 20 | ||
rs1800588 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 16 | ||
rs1800777 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 17 | |
rs1532624 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 12 | ||
rs247617 | 0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 | 20 | ||
rs2305948 | 0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 | 18 | ||
rs505151 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 18 | |
rs11206510 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 16 | |||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs8050136 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 32 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs899127658 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 82 | |||
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs76863441 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 25 |