| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs138049094 | 1.000 | 0.120 | 2 | 237369064 | missense variant | T/C | snv | 5.1E-04 | 3.0E-04 | 1 | |
| rs146092501 | 1.000 | 0.120 | 2 | 237371861 | missense variant | C/T | snv | 6.2E-03 | 5.9E-03 | 1 | |
| rs766488017 | 1.000 | 0.120 | 2 | 237371896 | missense variant | T/A | snv | 1.0E-04 | 4.2E-05 | 1 | |
| rs535661345 | 0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 | 3 | |
| rs114284669 | 1.000 | 0.120 | 2 | 237376802 | missense variant | T/C;G | snv | 2.1E-04 | 1 | ||
| rs1553561409 | 1.000 | 0.120 | 2 | 237377222 | stop gained | G/A | snv | 1 | |||
| rs761796175 | 1.000 | 0.120 | 2 | 237377336 | stop gained | G/A | snv | 4.2E-06 | 1 | ||
| rs35227432 | 1.000 | 0.120 | 2 | 237379103 | missense variant | C/A;T | snv | 8.0E-06; 1.5E-03 | 1 | ||
| rs1230578718 | 1.000 | 0.120 | 2 | 237380914 | splice donor variant | C/A | snv | 7.0E-06 | 1 | ||
| rs1559261557 | 1.000 | 0.120 | 2 | 237381113 | stop gained | G/A | snv | 1 | |||
| rs398124119 | 0.882 | 0.160 | 2 | 237395121 | stop gained | G/A | snv | 4.4E-05 | 2.8E-05 | 3 | |
| rs763187844 | 1.000 | 0.120 | 2 | 237396742 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs1556423728 | 1.000 | 0.120 | 21 | 45982682 | frameshift variant | C/- | delins | 1 | |||
| rs11553519 | 1.000 | 0.120 | 21 | 45984388 | missense variant | G/A;C | snv | 4.2E-02; 2.4E-05 | 1 | ||
| rs121912936 | 1.000 | 0.120 | 21 | 45984403 | missense variant | A/G | snv | 1 | |||
| rs1569517717 | 1.000 | 0.120 | 21 | 45984470 | splice donor variant | G/A | snv | 1 | |||
| rs762867111 | 1.000 | 0.120 | 21 | 45987076 | splice region variant | A/G | snv | 1.2E-05 | 5.6E-05 | 1 | |
| rs886043351 | 1.000 | 0.120 | 21 | 45987638 | missense variant | G/A;T | snv | 1 | |||
| rs1569518070 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 33 | |||
| rs398123640 | 1.000 | 0.120 | 21 | 45989093 | missense variant | G/A;C | snv | 4 | |||
| rs1064793840 | 1.000 | 0.120 | 21 | 45989094 | missense variant | G/A | snv | 1 | |||
| rs201093313 | 1.000 | 0.120 | 21 | 45989100 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 1 | ||
| rs1556425467 | 1.000 | 0.120 | 21 | 45989102 | missense variant | G/C;T | snv | 1 | |||
| rs1556425468 | 1.000 | 0.120 | 21 | 45989103 | missense variant | G/T | snv | 1 | |||
| rs1556425474 | 1.000 | 0.120 | 21 | 45989120 | inframe deletion | AGCCGGAGA/- | delins | 1 |