Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1419114 | 1 | 203683316 | synonymous variant | A/G | snv | 0.88 | 0.83 | 3 | |||
rs778986 | 1.000 | 0.080 | 19 | 5844526 | missense variant | A/G | snv | 0.84 | 0.84 | 2 | |
rs402940 | 6 | 111206785 | intron variant | G/A;C | snv | 0.80 | 2 | ||||
rs368865 | 13 | 112825506 | missense variant | A/C;G;T | snv | 0.76; 4.0E-06 | 4 | ||||
rs6500493 | 16 | 88737574 | missense variant | C/A;G;T | snv | 7.2E-06; 0.72; 7.2E-06 | 2 | ||||
rs4665830 | 2 | 26176345 | splice region variant | G/A | snv | 0.72 | 0.75 | 2 | |||
rs2255591 | 14 | 24432638 | intron variant | A/G;T | snv | 0.72 | 2 | ||||
rs428073 | 1.000 | 0.080 | 12 | 118244946 | missense variant | C/G;T | snv | 0.72 | 3 | ||
rs139472 | 22 | 41221314 | synonymous variant | G/C | snv | 0.71 | 0.75 | 2 | |||
rs1042034 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 9 | |
rs2287197 | 16 | 50072683 | missense variant | T/A;C | snv | 0.69 | 2 | ||||
rs12151021 | 19 | 1050875 | intron variant | A/G;T | snv | 0.69 | 3 | ||||
rs2302783 | 17 | 68450932 | intron variant | T/C | snv | 0.68 | 0.68 | 2 | |||
rs2578377 | 5 | 154033830 | missense variant | C/T | snv | 0.68 | 0.65 | 2 | |||
rs2270813 | 5 | 157737881 | splice region variant | T/A;C | snv | 0.64 | 2 | ||||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 64 | |
rs2074585 | 0.925 | 0.080 | 15 | 90466252 | intron variant | G/A | snv | 0.63 | 0.67 | 5 | |
rs415895 | 11 | 9748015 | missense variant | C/G | snv | 0.62 | 0.61 | 6 | |||
rs13306780 | 17 | 44251636 | intron variant | A/C;T | snv | 0.62; 4.2E-06 | 2 | ||||
rs6914831 | 1.000 | 0.080 | 6 | 135318506 | 3 prime UTR variant | C/T | snv | 0.59 | 0.59 | 3 | |
rs701929 | 1 | 211673534 | synonymous variant | A/G | snv | 0.57 | 0.53 | 2 | |||
rs855791 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 21 | ||
rs2901656 | 1 | 172465672 | 3 prime UTR variant | C/A;T | snv | 0.51 | 3 | ||||
rs878907 | 17 | 74773555 | non coding transcript exon variant | A/G | snv | 0.51 | 0.50 | 2 | |||
rs2285170 | 1 | 172456389 | intron variant | C/A;G | snv | 3.6E-05; 0.50 | 2 |