Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1451659304 | 1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv | 2 | |||
rs5707 | 1.000 | 0.040 | 1 | 204160543 | intron variant | A/C;G;T | snv | 0.25; 2.0E-05; 1.2E-05 | 2 | ||
rs1132312 | 1.000 | 0.040 | 1 | 15518120 | missense variant | A/C;G;T | snv | 0.53 | 1 | ||
rs111033566 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 11 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs1223231582 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 24 | ||
rs777418530 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 10 | |
rs778574118 | 1.000 | 0.040 | 10 | 113721138 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs2071746 | 0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 | 18 | ||
rs76863441 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 25 | |
rs121912654 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 21 | ||
rs1805017 | 0.851 | 0.240 | 6 | 46716485 | missense variant | C/A;T | snv | 4.0E-06; 0.31 | 5 | ||
rs497078 | 0.925 | 0.040 | 1 | 15440540 | synonymous variant | C/A;T | snv | 3.7E-03; 9.1E-02 | 2 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs371282890 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 6 | |
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
rs5029924 | 0.851 | 0.200 | 6 | 137866361 | intron variant | C/T | snv | 0.13 | 4 | ||
rs142907823 | 1.000 | 0.040 | 1 | 12188800 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs5743795 | 1.000 | 0.040 | 4 | 38830874 | intron variant | C/T | snv | 0.14 | 1 |