| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
| rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
| rs761230732 | 1.000 | 0.040 | 1 | 11801211 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
| rs216541 | 1.000 | 0.040 | 2 | 32130481 | non coding transcript exon variant | A/G;T | snv | 1 | |||
| rs3835942 | 1.000 | 0.040 | 2 | 161226860 | intron variant | -/GGTAATAAACAACCATGAGGTCTTTTTCTTTTGTCAATATACAACGTGATTATACTGAGAAG | delins | 1 | |||
| rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
| rs361525 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 62 | ||
| rs55671916 | 1.000 | 0.040 | 6 | 43523597 | 3 prime UTR variant | T/C | snv | 4.4E-02 | 1 | ||
| rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
| rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
| rs1404699 | 1.000 | 0.040 | 7 | 147343214 | intron variant | G/A | snv | 0.64 | 1 | ||
| rs2107856 | 1.000 | 0.040 | 7 | 147491593 | intron variant | G/A;T | snv | 1 | |||
| rs7803992 | 1.000 | 0.040 | 7 | 147343905 | intron variant | A/G;T | snv | 1 | |||
| rs781952083 | 1.000 | 0.040 | 7 | 74043894 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |
| rs863223526 | 1.000 | 0.040 | 7 | 74046710 | frameshift variant | G/- | delins | 1 | |||
| rs2279590 | 0.851 | 0.200 | 8 | 27598736 | non coding transcript exon variant | T/C | snv | 0.69 | 5 | ||
| rs3087554 | 1.000 | 0.040 | 8 | 27597925 | 3 prime UTR variant | T/C | snv | 0.23 | 0.21 | 1 | |
| rs2149356 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 14 | ||
| rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
| rs2155248 | 1.000 | 0.040 | 11 | 93733700 | mature miRNA variant | G/C;T | snv | 3.0E-05; 0.96 | 1 | ||
| rs7137828 | 0.763 | 0.200 | 12 | 111494996 | intron variant | C/A;T | snv | 15 | |||
| rs1057035 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 12 | ||
| rs8006686 | 0.925 | 0.040 | 14 | 64401953 | intron variant | T/C | snv | 0.22 | 2 | ||
| rs137854859 | 1.000 | 0.040 | 14 | 74529111 | missense variant | T/C;G | snv | 1.3E-05 | 1 |