| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs763868966 | 1.000 | 0.080 | 17 | 44911429 | stop gained | C/A;G;T | snv | 1.2E-05; 4.0E-05 | 4 | ||
| rs587777570 | 1.000 | 2 | 148947018 | missense variant | G/A | snv | 3 | ||||
| rs7309332 | 1.000 | 0.040 | 12 | 7938243 | upstream gene variant | T/C | snv | 0.59 | 3 | ||
| rs2838958 | 1.000 | 0.080 | 21 | 45528653 | intron variant | G/A | snv | 0.45 | 3 | ||
| rs775130992 | 1.000 | 0.040 | 8 | 38146310 | missense variant | G/T | snv | 4.0E-06 | 3 | ||
| rs6334 | 1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 | 3 | ||
| rs63750072 | 1.000 | 0.080 | 17 | 45983493 | missense variant | A/G | snv | 4.0E-02 | 3.8E-02 | 3 | |
| rs5963409 | 1.000 | 0.080 | X | 38351716 | intron variant | A/C;G | snv | 3 | |||
| rs10132552 | 1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 | 3 | ||
| rs28935490 | 1.000 | 0.160 | X | 101398432 | missense variant | C/A;T | snv | 3.0E-03; 5.4E-06 | 3 | ||
| rs17536211 | 1.000 | 0.040 | 4 | 46085716 | intron variant | A/C | snv | 0.14 | 3 | ||
| rs2235632 | 1.000 | 0.040 | 16 | 1343019 | splice region variant | G/A | snv | 0.46 | 0.42 | 3 | |
| rs1110976 | 1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv | 3 | |||
| rs2180619 | 1.000 | 0.040 | 6 | 88168233 | upstream gene variant | G/A | snv | 0.53 | 3 | ||
| rs1132358 | 1.000 | 0.040 | 16 | 1347814 | synonymous variant | C/T | snv | 0.44 | 0.39 | 3 | |
| rs3812047 | 1.000 | 0.040 | 5 | 37835296 | intron variant | C/G;T | snv | 3 | |||
| rs4245146 | 1.000 | 0.040 | 11 | 113447251 | intron variant | T/C | snv | 0.49 | 3 | ||
| rs1254179611 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 3 | |||
| rs58327533 | 1.000 | 0.120 | 1 | 156114991 | missense variant | C/G;T | snv | 3 | |||
| rs220733 | 1.000 | 0.080 | 6 | 159897771 | intron variant | A/C;G | snv | 0.99 | 3 | ||
| rs858339 | 1.000 | 0.120 | 6 | 131832757 | intron variant | T/A | snv | 0.30 | 3 | ||
| rs7573065 | 1.000 | 0.120 | 2 | 218381984 | upstream gene variant | C/A;T | snv | 3 | |||
| rs3741559 | 1.000 | 0.160 | 12 | 49951193 | splice region variant | G/A | snv | 0.20 | 0.17 | 3 | |
| rs121918518 | 1.000 | 0.080 | 19 | 53889655 | missense variant | C/G | snv | 3 | |||
| rs118204095 | 1.000 | 0.160 | 11 | 119091414 | missense variant | G/A;T | snv | 4.5E-05 | 3 |