| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1799810 | 1.000 | 0.040 | 2 | 127418464 | 5 prime UTR variant | A/T | snv | 0.38 | 0.44 | 5 | |
| rs2289252 | 1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 | 4 | ||
| rs13146272 | 1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 | 3 | |
| rs1799808 | 1.000 | 0.040 | 2 | 127418286 | upstream gene variant | C/T | snv | 0.33 | 3 | ||
| rs747301897 | 1.000 | 0.040 | 19 | 45363999 | synonymous variant | G/A | snv | 7.1E-06 | 3 | ||
| rs118203905 | 1.000 | 0.040 | 1 | 169555300 | missense variant | T/C | snv | 6.9E-04 | 2.0E-04 | 2 | |
| rs2232710 | 1.000 | 0.040 | 14 | 94284149 | missense variant | T/C | snv | 8.1E-03 | 8.1E-03 | 2 | |
| rs6048 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 2 | |
| rs1203757587 | 1.000 | 0.040 | 1 | 11792279 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs12634349 | 1.000 | 0.040 | 3 | 93882955 | intron variant | A/G | snv | 0.34 | 1 | ||
| rs13062355 | 1.000 | 0.040 | 3 | 93969667 | intron variant | G/A | snv | 0.46 | 1 | ||
| rs2089252 | 1.000 | 0.040 | 4 | 75909495 | downstream gene variant | T/C | snv | 2.5E-02 | 1 | ||
| rs3138521 | 1.000 | 0.040 | 1 | 173917605 | upstream gene variant | CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT | delins | 1 | |||
| rs422187 | 1.000 | 0.040 | X | 139550700 | intron variant | A/C;G | snv | 1 | |||
| rs556266847 | 1.000 | 0.040 | 1 | 169550655 | missense variant | A/G | snv | 1 | |||
| rs573703484 | 1.000 | 0.040 | 17 | 81845659 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 1 | |
| rs6441600 | 1.000 | 0.040 | 3 | 93956895 | intron variant | C/G | snv | 0.97 | 1 | ||
| rs752714051 | 1.000 | 0.040 | 11 | 66871317 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs762607581 | 1.000 | 0.040 | 11 | 46739317 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs773761677 | 1.000 | 0.040 | 2 | 127428444 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs780533499 | 1.000 | 0.040 | 20 | 23048100 | missense variant | C/A;T | snv | 4.1E-06 | 1 | ||
| rs1553424043 | 0.925 | 0.120 | 2 | 127423123 | missense variant | T/C | snv | 3 | |||
| rs2227589 | 0.925 | 0.120 | 1 | 173917078 | intron variant | C/T | snv | 9.6E-02 | 3 | ||
| rs369504169 | 0.925 | 0.120 | 2 | 127421337 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs764948729 | 0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 | 3 |