| 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 | |
| rs1051740 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 56 | |
| rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
| rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
| rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
| rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 | |||
| rs1042114 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 6 | ||
| rs595961 | 0.807 | 0.160 | 1 | 35902179 | intron variant | A/G | snv | 0.30 | 0.37 | 6 | |
| rs147247472 | 0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 | 5 | ||
| rs2234918 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 5 | |
| rs6691840 | 0.827 | 0.120 | 1 | 36859876 | missense variant | A/C;G | snv | 0.27; 9.2E-05 | 5 | ||
| rs2094081 | 0.925 | 0.080 | 1 | 38927359 | intron variant | G/A;C | snv | 4 | |||
| rs72737330 | 0.925 | 0.080 | 1 | 216600151 | intron variant | T/C | snv | 0.15 | 4 | ||
| rs4478858 | 1.000 | 0.080 | 1 | 31411078 | intron variant | T/C | snv | 0.48 | 3 | ||
| rs61776290 | 1.000 | 0.080 | 1 | 10634850 | upstream gene variant | C/T | snv | 8.7E-02 | 3 | ||
| rs6701037 | 1.000 | 0.080 | 1 | 175150943 | downstream gene variant | A/C;T | snv | 3 | |||
| rs1057302 | 1.000 | 0.080 | 1 | 175157287 | 3 prime UTR variant | A/G | snv | 0.38 | 1 | ||
| rs10889635 | 1.000 | 0.080 | 1 | 66609892 | intron variant | G/A | snv | 0.65 | 1 | ||
| rs10913569 | 1.000 | 0.080 | 1 | 178548873 | non coding transcript exon variant | A/G;T | snv | 1 | |||
| rs11583322 | 1.000 | 0.080 | 1 | 36356711 | intron variant | T/C | snv | 0.30 | 1 | ||
| rs17028719 | 1.000 | 0.080 | 1 | 5734948 | intergenic variant | A/G | snv | 4.8E-02 | 1 | ||
| rs1890881 | 1.000 | 0.080 | 1 | 174207785 | intron variant | T/C | snv | 0.12 | 1 | ||
| rs2269655 | 1.000 | 0.080 | 1 | 175166468 | intron variant | C/A;T | snv | 1 | |||
| rs61826952 | 1.000 | 0.080 | 1 | 174668799 | intron variant | A/G | snv | 0.10 | 1 | ||
| rs6425323 | 1.000 | 0.080 | 1 | 175155900 | downstream gene variant | C/T | snv | 0.39 | 1 |