| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs10850379 | 1.000 | 0.040 | 12 | 109564972 | non coding transcript exon variant | C/T | snv | 0.40 | 1 | ||
| rs11669576 | 0.851 | 0.160 | 19 | 11111624 | missense variant | G/A | snv | 4.3E-02 | 8.4E-02 | 6 | |
| rs1946518 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 46 | ||
| rs2572431 | 1.000 | 0.040 | 8 | 11247568 | downstream gene variant | C/G;T | snv | 2 | |||
| rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
| rs4937872 | 1.000 | 0.040 | 11 | 112956992 | upstream gene variant | A/G;T | snv | 1 | |||
| rs900418273 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 8 | |||
| rs1110976 | 1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv | 3 | |||
| rs4245150 | 1.000 | 0.040 | 11 | 113493925 | intergenic variant | G/T | snv | 0.72 | 1 | ||
| rs6330 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 12 | |
| rs62551581 | 1.000 | 0.040 | 9 | 11610677 | intergenic variant | A/C | snv | 0.15 | 1 | ||
| rs10507274 | 1.000 | 0.040 | 12 | 116723171 | missense variant | T/C | snv | 4.7E-02 | 4.4E-02 | 2 | |
| rs10112596 | 0.925 | 0.120 | 8 | 11722293 | intron variant | A/G | snv | 0.83 | 3 | ||
| rs34644694 | 1.000 | 0.040 | 1 | 117274369 | intron variant | C/A | snv | 0.70 | 1 | ||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs57360718 | 1.000 | 0.040 | 4 | 118015036 | intergenic variant | T/C | snv | 0.10 | 1 | ||
| rs6851494 | 1.000 | 0.040 | 4 | 118133633 | intron variant | G/A;C;T | snv | 1 | |||
| rs1057518806 | 1.000 | 0.040 | 11 | 119093155 | frameshift variant | G/- | del | 4 | |||
| rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
| rs4684833 | 1.000 | 0.040 | 3 | 11990245 | intergenic variant | C/T | snv | 0.79 | 2 | ||
| rs3817190 | 0.851 | 0.080 | 12 | 121274274 | missense variant | T/A;G | snv | 0.38 | 6 | ||
| rs6478623 | 1.000 | 0.040 | 9 | 123552844 | intron variant | T/G | snv | 0.36 | 2 | ||
| rs1593304 | 0.925 | 0.120 | 7 | 131935088 | intron variant | A/G;T | snv | 2 | |||
| rs1881457 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 9 | ||
| rs2235632 | 1.000 | 0.040 | 16 | 1343019 | splice region variant | G/A | snv | 0.46 | 0.42 | 3 |