| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs991104525 | 0.882 | 0.160 | 5 | 78969051 | missense variant | G/A | snv | 1.2E-05 | 7.7E-05 | 4 | |
| rs118203941 | 0.882 | 0.160 | 5 | 78781974 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 3 | |
| rs121918181 | 0.882 | 0.120 | 7 | 65979782 | missense variant | G/A | snv | 5.6E-05 | 7.0E-05 | 3 | |
| rs118203939 | 0.925 | 0.120 | 5 | 78969156 | missense variant | A/G | snv | 8.0E-06 | 2 | ||
| rs118203943 | 0.925 | 0.160 | 5 | 78964477 | missense variant | T/C | snv | 2.7E-04 | 1.7E-04 | 2 | |
| rs397514441 | 0.925 | 0.120 | 5 | 78985034 | missense variant | A/C;G;T | snv | 5.5E-06 | 2 | ||
| rs431905493 | 0.925 | 0.120 | 5 | 78985011 | frameshift variant | C/- | delins | 2 | |||
| rs431905494 | 0.925 | 0.120 | 5 | 78955450 | frameshift variant | G/- | delins | 2 | |||
| rs766914147 | 0.925 | 0.160 | 5 | 78969078 | frameshift variant | C/- | delins | 2.0E-05 | 7.0E-06 | 2 | |
| rs1434169374 | 0.925 | 0.120 | 7 | 65974349 | stop gained | C/T | snv | 1.4E-05 | 2 | ||
| rs1028653411 | 1.000 | 0.120 | 5 | 78985129 | frameshift variant | CCCGAGCCCGGCG/- | delins | 1 | |||
| rs1171277553 | 1.000 | 0.120 | 5 | 78781899 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs1179935748 | 1.000 | 0.120 | 5 | 78985073 | missense variant | T/A;C | snv | 2.2E-05 | 1 | ||
| rs118203938 | 1.000 | 0.120 | 5 | 78969095 | missense variant | C/A;T | snv | 5.6E-05 | 1 | ||
| rs118203940 | 1.000 | 0.120 | 5 | 78955486 | missense variant | A/G | snv | 1 | |||
| rs118203942 | 1.000 | 0.120 | 5 | 78984965 | missense variant | C/G;T | snv | 6.8E-06; 6.8E-06 | 1 | ||
| rs118203944 | 1.000 | 0.120 | 5 | 78839391 | missense variant | T/C;G | snv | 2.8E-05 | 1 | ||
| rs1196325597 | 1.000 | 0.120 | 5 | 78969026 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs1209412483 | 1.000 | 0.120 | 5 | 78780605 | stop gained | G/A;C | snv | 1.4E-05 | 1 | ||
| rs1211360114 | 1.000 | 0.120 | 5 | 78780584 | missense variant | A/C;G | snv | 7.0E-06 | 1 | ||
| rs1251438062 | 1.000 | 0.120 | 5 | 78780460 | stop gained | G/C;T | snv | 4.0E-06 | 1 | ||
| rs1255777033 | 1.000 | 0.120 | 5 | 78969027 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 1 | |
| rs1299207831 | 1.000 | 0.120 | 5 | 78984987 | stop gained | G/A | snv | 7.0E-06 | 1 | ||
| rs1408739927 | 1.000 | 0.120 | 5 | 78885818 | missense variant | C/T | snv | 1 | |||
| rs1465993279 | 1.000 | 0.120 | 5 | 78780659 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 1 |