| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs3123543 | 1 | 212617344 | intron variant | T/A;C | snv | 13 | |||||
| rs3811444 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 12 | |||
| rs56043070 | 1 | 247556467 | splice donor variant | G/A;T | snv | 5.2E-02; 4.1E-06 | 4 | ||||
| rs12041331 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 3 | ||
| rs41315846 | 1 | 247549001 | intron variant | T/C | snv | 0.44 | 0.52 | 3 | |||
| rs7529925 | 1 | 199038079 | intron variant | C/T | snv | 0.77 | 3 | ||||
| rs1050316 | 1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 | 2 | ||||
| rs10914144 | 1 | 171980610 | intron variant | T/C | snv | 0.78 | 2 | ||||
| rs111941366 | 1 | 25409878 | intron variant | C/T | snv | 0.30 | 2 | ||||
| rs12096438 | 1 | 25562931 | non coding transcript exon variant | C/A;T | snv | 2 | |||||
| rs10919585 | 1 | 198806192 | intron variant | T/C | snv | 0.52 | 1 | ||||
| rs11121845 | 1 | 11968598 | intron variant | C/T | snv | 0.50 | 1 | ||||
| rs11240408 | 1 | 205295408 | intergenic variant | A/C;G;T | snv | 1 | |||||
| rs144084486 | 1 | 247440079 | intron variant | CGTGTTAGGTATAGCCTA/-;CGTGTTAGGTATAGCCTACGTGTTAGGTATAGCCTA | delins | 0.61 | 1 | ||||
| rs1538970 | 1 | 45381890 | intron variant | G/A;C;T | snv | 1 | |||||
| rs1668871 | 1 | 205268009 | intron variant | T/C;G | snv | 1 | |||||
| rs2208368 | 1 | 171923265 | intron variant | A/G;T | snv | 1 | |||||
| rs2336384 | 1.000 | 0.040 | 1 | 11986006 | intron variant | G/T | snv | 0.65 | 1 | ||
| rs2932536 | 1 | 112659795 | intron variant | G/A | snv | 0.50 | 0.51 | 1 | |||
| rs34660448 | 1 | 154185373 | intron variant | AAAAAAAAAA/-;AAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA | delins | 1 | |||||
| rs370869951 | 1 | 150355421 | downstream gene variant | AAAA/-;A;AAA;AAAAA;AAAAAA;AAAAAAAAAAAAA | delins | 1 | |||||
| rs4631704 | 1 | 230157783 | intron variant | C/A;G;T | snv | 1 | |||||
| rs4846217 | 1 | 10391742 | upstream gene variant | C/T | snv | 0.14 | 1 | ||||
| rs4925747 | 1 | 247873252 | intron variant | G/A | snv | 0.43 | 1 | ||||
| rs4925750 | 1 | 247875023 | intron variant | T/C | snv | 0.33 | 1 |