| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs545854 | 0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 | 4 | ||
| rs4148500 | 1.000 | 0.040 | 13 | 95166034 | intron variant | G/A | snv | 1.9E-02 | 1 | ||
| rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
| rs2054576 | 0.882 | 0.160 | 4 | 88107623 | intron variant | A/G | snv | 7.8E-02 | 4 | ||
| rs199897813 | 1.000 | 0.040 | 4 | 88094576 | splice donor variant | C/A;T | snv | 5.2E-05 | 2 | ||
| rs72552713 | 0.925 | 0.040 | 4 | 88131805 | stop gained | G/A | snv | 4.0E-04 | 1.2E-04 | 2 | |
| rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
| rs6903956 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 10 | ||
| rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
| rs200548390 | 1.000 | 0.040 | 7 | 73478187 | missense variant | T/C | snv | 3.3E-04 | 3.5E-05 | 1 | |
| rs61754122 | 1.000 | 0.040 | 20 | 54028628 | missense variant | C/A;T | snv | 1.1E-02; 8.0E-06 | 3 | ||
| rs141158222 | 1.000 | 0.040 | 20 | 53953466 | missense variant | C/T | snv | 1.2E-04 | 1.9E-04 | 1 | |
| rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
| rs1209613132 | 1.000 | 0.040 | 7 | 94404745 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs753397550 | 1.000 | 0.040 | 7 | 94426426 | missense variant | C/G;T | snv | 4.6E-06; 9.3E-06 | 1 | ||
| rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
| rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
| rs142226072 | 1.000 | 0.040 | 16 | 89637551 | splice region variant | C/T | snv | 2.2E-04 | 3.6E-04 | 1 | |
| rs201874364 | 1.000 | 0.040 | 3 | 186065822 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 4 | ||
| rs11554266 | 1.000 | 0.040 | 20 | 58903791 | splice region variant | C/G;T | snv | 4.0E-06; 2.3E-03 | 4 | ||
| rs727502862 | 1.000 | 0.040 | 17 | 44399142 | missense variant | C/G;T | snv | 1 | |||
| rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
| rs2941484 | 0.882 | 0.160 | 8 | 75566533 | 3 prime UTR variant | C/T | snv | 0.52 | 4 | ||
| rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
| rs150801101 | 1.000 | 0.040 | 15 | 98957359 | missense variant | G/A | snv | 1.1E-04 | 3.6E-04 | 1 |