Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121434629 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 12 | ||
| rs63750250 | 0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 | 9 | |
| rs267608150 | 0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins | 7 | |||
| rs587779340 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 7 | ||
| rs63751422 | 0.882 | 0.280 | 7 | 5986838 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
| rs63750695 | 0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins | 6 | |||
| rs587780059 | 0.882 | 0.200 | 7 | 6009018 | start lost | A/C;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 5 | ||
| rs200640585 | 0.790 | 0.280 | 7 | 5992018 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 5 | |
| rs63750871 | 0.882 | 0.200 | 7 | 6002590 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 5 | |
| rs63751466 | 0.882 | 0.200 | 7 | 5977629 | stop gained | G/A;T | snv | 2.7E-05 | 5 | ||
| rs587779333 | 0.851 | 0.200 | 7 | 6009019 | start lost | T/A;C;G | snv | 4.0E-06; 2.8E-05 | 5 | ||
| rs201451115 | 0.925 | 0.160 | 7 | 5986826 | stop gained | T/A | snv | 4.0E-06 | 4 | ||
| rs267608153 | 0.925 | 0.160 | 7 | 5995534 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 4 | ||
| rs267608154 | 0.925 | 0.160 | 7 | 5995573 | frameshift variant | CTGTCTGT/-;CTGT | delins | 4 | |||
| rs267608160 | 0.925 | 0.200 | 7 | 5977669 | frameshift variant | GAAG/- | del | 4 | |||
| rs267608161 | 0.851 | 0.200 | 7 | 5982885 | missense variant | C/T | snv | 4.0E-05 | 2.8E-05 | 4 | |
| rs267608172 | 0.925 | 0.160 | 7 | 5982823 | splice donor variant | C/A;G;T | snv | 4.1E-06; 1.6E-05 | 4 | ||
| rs587778617 | 0.807 | 0.240 | 7 | 5987504 | stop gained | G/A | snv | 7.0E-06 | 4 | ||
| rs587780062 | 0.827 | 0.240 | 7 | 5995614 | stop gained | G/A;C | snv | 8.0E-06; 8.0E-05 | 4 | ||
| rs587782704 | 0.925 | 0.160 | 7 | 5982881 | frameshift variant | T/- | delins | 4 | |||
| rs63750049 | 0.925 | 0.160 | 7 | 5989923 | frameshift variant | T/- | delins | 4 | |||
| rs63750246 | 0.925 | 0.160 | 7 | 5995574 | frameshift variant | GT/- | delins | 4 | |||
| rs63750451 | 0.827 | 0.160 | 7 | 5986883 | stop gained | G/A;C | snv | 1.6E-05 | 4 | ||
| rs758304323 | 0.925 | 0.160 | 7 | 5999277 | splice acceptor variant | T/C | snv | 1.2E-05 | 4 | ||
| rs876659736 | 0.925 | 0.200 | 7 | 5995612 | missense variant | T/A;C | snv | 8.0E-06 | 4 |