Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs74421874 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 14 | ||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs7799039 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 33 | |||
rs200487063 | 0.851 | 0.200 | 7 | 128241246 | upstream gene variant | G/A | snv | 2.1E-05 | 5 | ||
rs34104384 | 0.851 | 0.200 | 7 | 128241254 | upstream gene variant | A/T | snv | 8.2E-03 | 5 | ||
rs4988235 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 19 | |||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs56149945 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 49 | ||
rs4757268 | 0.827 | 0.120 | 11 | 14789216 | synonymous variant | A/G | snv | 0.63 | 0.64 | 6 | |
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs12124383 | 1.000 | 0.080 | 1 | 155946002 | downstream gene variant | G/A | snv | 3.7E-03 | 2 | ||
rs1800247 | 0.882 | 0.200 | 1 | 156242034 | intron variant | T/C | snv | 0.20 | 4 | ||
rs183433761 | 0.851 | 0.200 | 2 | 162152278 | 5 prime UTR variant | T/C;G | snv | 5 | |||
rs1269801977 | 0.925 | 0.120 | 2 | 169604087 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 4 |