Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs548234 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 11 | ||
rs510432 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 11 | ||
rs9514828 | 0.752 | 0.440 | 13 | 108269025 | intron variant | C/T | snv | 0.35 | 12 | ||
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs430397 | 0.763 | 0.240 | 9 | 125238840 | intron variant | C/T | snv | 9.1E-02 | 0.11 | 9 | |
rs747432300 | 0.925 | 0.120 | 8 | 144504357 | missense variant | C/A;T | snv | 8.1E-06; 1.2E-04 | 2 | ||
rs1054690270 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 5 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs485618 | 0.851 | 0.160 | 1 | 160830690 | 3 prime UTR variant | T/A;C;G | snv | 0.54 | 4 | ||
rs4656942 | 0.851 | 0.160 | 1 | 160861258 | intron variant | G/A;C;T | snv | 4 | |||
rs3820998 | 0.882 | 0.120 | 2 | 161138615 | intron variant | C/A;T | snv | 3 | |||
rs3775290 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 15 | ||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs58542926 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 42 | |
rs10932029 | 0.827 | 0.200 | 2 | 203937045 | intron variant | T/A;C | snv | 5 | |||
rs2234671 | 0.807 | 0.240 | 2 | 218164385 | missense variant | C/G | snv | 9.1E-02 | 0.11 | 7 | |
rs5744174 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 13 | |
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs10204525 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 20 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 |