| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs727504247 | 0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 | 5 | |
| rs121964857 | 0.851 | 0.080 | 1 | 201359245 | missense variant | G/A | snv | 3.6E-04 | 4.3E-04 | 4 | |
| rs397516482 | 1.000 | 0.080 | 1 | 201361286 | missense variant | T/A | snv | 7.0E-06 | 1 | ||
| rs727504246 | 0.827 | 0.080 | 1 | 201363330 | missense variant | G/A | snv | 5 | |||
| rs730881115 | 1.000 | 0.080 | 1 | 201364336 | frameshift variant | G/- | delins | 9.1E-05 | 1 | ||
| rs727504331 | 0.925 | 0.080 | 1 | 201365242 | missense variant | A/C | snv | 8.0E-06 | 2 | ||
| rs121964858 | 0.807 | 0.120 | 1 | 201365244 | missense variant | A/C;G;T | snv | 6 | |||
| rs727504245 | 0.851 | 0.080 | 1 | 201365261 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 4 | |
| rs397516456 | 0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 5 | |
| rs267607490 | 0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv | 6 | |||
| rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
| rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
| rs397516248 | 0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv | 6 | |||
| rs727504385 | 1.000 | 0.080 | 14 | 23415210 | missense variant | T/C | snv | 1 | |||
| rs193922390 | 0.882 | 0.080 | 14 | 23415651 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-05 | 3 | ||
| rs121913650 | 0.925 | 0.080 | 14 | 23415652 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
| rs1555336467 | 1.000 | 0.080 | 14 | 23416211 | inframe deletion | CTC/- | delins | 1 | |||
| rs397516220 | 0.925 | 0.160 | 14 | 23416988 | splice acceptor variant | CTC/- | delins | 2 | |||
| rs121913647 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 4 | ||
| rs45544633 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 4 | |||
| rs730880800 | 1.000 | 0.080 | 14 | 23417556 | missense variant | G/A | snv | 1 | |||
| rs397516207 | 0.925 | 0.080 | 14 | 23417597 | missense variant | C/T | snv | 2 | |||
| rs397516202 | 0.882 | 0.080 | 14 | 23418244 | missense variant | C/A;T | snv | 7.0E-06 | 3 | ||
| rs397516201 | 0.882 | 0.080 | 14 | 23418249 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs727503246 | 0.882 | 0.080 | 14 | 23418313 | missense variant | C/T | snv | 7.0E-06 | 4 |