Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs9651118 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 20 | ||
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs5065 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 12 | |
rs198389 | 0.776 | 0.240 | 1 | 11859214 | upstream gene variant | A/G | snv | 0.39 | 10 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs2393791 | 0.925 | 0.160 | 12 | 120986153 | intron variant | C/T | snv | 0.62 | 8 | ||
rs7310409 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 7 | |||
rs137853240 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 8 | ||
rs2259820 | 0.882 | 0.160 | 12 | 120997539 | synonymous variant | C/T | snv | 0.34 | 0.26 | 6 | |
rs2464196 | 0.742 | 0.320 | 12 | 120997624 | missense variant | G/A | snv | 0.34 | 0.27 | 17 | |
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 | |
rs9817428 | 0.925 | 0.120 | 3 | 12298768 | intron variant | C/A | snv | 0.31 | 3 | ||
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 | |
rs121909244 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
rs9838915 | 0.882 | 0.120 | 3 | 126347377 | intron variant | G/A | snv | 0.19 | 4 | ||
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 |