| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs3811444 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 12 | |||
| rs17534202 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 6 | ||
| rs1175550 | 1 | 3774964 | intron variant | A/G | snv | 0.31 | 5 | ||||
| rs1434282 | 1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 | 5 | ||||
| rs2022003 | 1 | 158617176 | intron variant | A/T | snv | 0.28 | 5 | ||||
| rs56043070 | 1 | 247556467 | splice donor variant | G/A;T | snv | 5.2E-02; 4.1E-06 | 4 | ||||
| rs61823972 | 1 | 205232197 | intron variant | A/C;T | snv | 4 | |||||
| rs778387 | 1 | 56158423 | intron variant | C/A;G;T | snv | 4 | |||||
| rs12568930 | 1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 | 3 | ||
| rs1339847 | 1 | 247875992 | missense variant | G/A | snv | 0.12 | 0.10 | 2 | |||
| rs140446749 | 1 | 158668470 | intron variant | G/A | snv | 8.0E-03 | 2 | ||||
| rs17853159 | 1 | 45345193 | missense variant | G/A | snv | 5.2E-02 | 5.1E-02 | 2 | |||
| rs7520050 | 1 | 45966433 | intron variant | A/C;G | snv | 2 | |||||
| rs78132593 | 1 | 150895626 | intron variant | C/A;T | snv | 2 | |||||
| rs10449752 | 1 | 56152275 | intron variant | T/A;G | snv | 1 | |||||
| rs10710459 | 1 | 56467292 | intron variant | AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA | delins | 0.87 | 1 | ||||
| rs10911457 | 1 | 183873970 | intron variant | T/C | snv | 0.55 | 1 | ||||
| rs11325774 | 1 | 220015795 | intron variant | AAA/-;A;AA;AAAA | delins | 0.64 | 1 | ||||
| rs1151786 | 1 | 205258632 | intron variant | G/A;C;T | snv | 1 | |||||
| rs11587735 | 1 | 117610389 | intron variant | A/C | snv | 0.14 | 1 | ||||
| rs116100695 | 0.925 | 0.120 | 1 | 155291918 | missense variant | G/A | snv | 3.0E-03 | 2.8E-03 | 1 | |
| rs12140703 | 1 | 205213737 | upstream gene variant | G/C | snv | 0.27 | 1 | ||||
| rs12239179 | 1 | 199007363 | non coding transcript exon variant | C/T | snv | 0.70 | 1 | ||||
| rs141119689 | 1 | 155301643 | upstream gene variant | A/- | del | 4.4E-02 | 1 | ||||
| rs145589976 | 1 | 183878145 | intron variant | TTCTTTCT/-;TTCT;TTCTTTCTTTCT | delins | 1 |