| 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 | |
| rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
| rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
| rs4606 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 16 | |||
| rs6330 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 12 | |
| rs57875989 | 0.882 | 0.080 | 1 | 7829913 | splice acceptor variant | GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC | delins | 0.11 | 0.18 | 7 | |
| rs228697 | 0.882 | 0.080 | 1 | 7827519 | missense variant | C/G | snv | 8.7E-02 | 7.3E-02 | 5 | |
| rs2478813 | 0.882 | 0.080 | 1 | 208073865 | intron variant | A/G | snv | 0.85 | 4 | ||
| rs10801153 | 0.925 | 0.080 | 1 | 192794818 | intron variant | G/A | snv | 0.27 | 3 | ||
| rs7528604 | 0.925 | 0.040 | 1 | 65941669 | intron variant | G/A | snv | 0.42 | 3 | ||
| rs112146896 | 1.000 | 0.040 | 1 | 15418527 | intron variant | A/C;G;T | snv | 2 | |||
| rs12145083 | 1.000 | 0.040 | 1 | 197853864 | intergenic variant | T/A | snv | 0.17 | 1 | ||
| rs1296171 | 1.000 | 0.040 | 1 | 226871905 | intron variant | C/A;G | snv | 1 | |||
| rs1938386 | 1.000 | 0.040 | 1 | 226909338 | intron variant | G/T | snv | 0.57 | 1 | ||
| rs2488401 | 1.000 | 0.040 | 1 | 197733271 | intron variant | C/A;T | snv | 1 | |||
| rs332828 | 1.000 | 0.040 | 1 | 61277021 | intron variant | G/A | snv | 0.36 | 1 | ||
| rs34644694 | 1.000 | 0.040 | 1 | 117274369 | intron variant | C/A | snv | 0.70 | 1 | ||
| rs488359 | 1.000 | 0.040 | 1 | 36698055 | intergenic variant | A/C;G | snv | 1 | |||
| rs61731122 | 1.000 | 0.040 | 1 | 64632626 | synonymous variant | G/A;T | snv | 1.8E-02; 4.0E-06 | 1 | ||
| rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
| rs17196295 | 1.000 | 0.040 | 2 | 199287475 | intron variant | A/G | snv | 0.21 | 1 | ||
| rs2672852 | 1.000 | 0.040 | 2 | 103455652 | intergenic variant | C/T | snv | 0.44 | 1 | ||
| rs730356 | 1.000 | 0.040 | 2 | 147779492 | intergenic variant | T/A | snv | 0.15 | 1 | ||
| rs7567451 | 1.000 | 0.040 | 2 | 156196868 | intron variant | G/T | snv | 0.61 | 1 | ||
| rs78260322 | 1.000 | 0.040 | 2 | 86566075 | intron variant | A/G | snv | 7.4E-02 | 1 |