| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121913643 | 1.000 | 0.040 | 14 | 23425413 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
| rs121913645 | 1.000 | 0.040 | 14 | 23431650 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs142191737 | 1.000 | 0.040 | 1 | 156137679 | missense variant | G/A | snv | 2.3E-04 | 2.4E-04 | 1 | |
| rs1555337916 | 1.000 | 0.040 | 14 | 23426012 | missense variant | C/T | snv | 1 | |||
| rs397515482 | 0.925 | 0.040 | 14 | 23430949 | missense variant | A/C | snv | 1 | |||
| rs397516258 | 1.000 | 0.040 | 14 | 23431798 | missense variant | A/G;T | snv | 1 | |||
| rs397516695 | 0.882 | 0.040 | 2 | 219418869 | missense variant | T/A;C | snv | 5.5E-05 | 1 | ||
| rs750836033 | 1.000 | 0.040 | 14 | 23418303 | missense variant | C/T | snv | 2.0E-05 | 1 | ||
| rs757922359 | 1.000 | 0.040 | 12 | 32821466 | missense variant | G/A;C | snv | 1 | |||
| rs761807131 | 0.882 | 0.160 | 2 | 178610089 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
| rs59684335 | 0.882 | 0.120 | 1 | 156135280 | frameshift variant | CT/- | delins | 3 | |||
| rs1114167323 | 1.000 | 0.040 | 2 | 178584515 | frameshift variant | GC/- | del | 1 | |||
| rs1114167327 | 1.000 | 0.040 | 2 | 219425706 | frameshift variant | ACGG/- | delins | 1 | |||
| rs1114167333 | 1.000 | 0.040 | 2 | 178633449 | frameshift variant | CA/- | delins | 1 | |||
| rs1114167335 | 1.000 | 0.040 | 2 | 178603919 | frameshift variant | A/- | del | 1 | |||
| rs1553939749 | 1.000 | 0.040 | 2 | 178740785 | frameshift variant | GGGAGATGGTT/- | delins | 1 | |||
| rs794729356 | 1.000 | 0.040 | 2 | 178557999 | frameshift variant | C/- | del | 1 | |||
| rs587779396 | 0.925 | 0.160 | 14 | 23415174 | inframe deletion | CAG/- | delins | 2 | |||
| rs1114167332 | 1.000 | 0.040 | 2 | 219418955 | protein altering variant | CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT | delins | 1 |