Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs104894097 | 0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 | 7 | ||
| rs104894094 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 6 | ||
| rs121913386 | 0.807 | 0.120 | 9 | 21971018 | missense variant | G/A;T | snv | 6 | |||
| rs104894098 | 0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv | 4 | |||
| rs104894099 | 0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 | 4 | ||
| rs104894104 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 4 | |||
| rs104894095 | 0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 | 3 | ||
| rs878853647 | 0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv | 3 | |||
| rs121913388 | 0.925 | 0.040 | 9 | 21971121 | stop gained | G/A;C | snv | 4.4E-06 | 2 | ||
| rs137854599 | 0.882 | 0.080 | 9 | 21971093 | missense variant | C/G;T | snv | 2 | |||
| rs387906410 | 0.882 | 0.080 | 9 | 21971019 | missense variant | GC/AG | mnv | 2 | |||
| rs559848002 | 0.925 | 0.120 | 9 | 21971147 | missense variant | T/C;G | snv | 4.7E-06 | 2 | ||
| rs1064794292 | 0.882 | 0.200 | 9 | 21974760 | missense variant | C/T | snv | 1 | |||
| rs1131691186 | 0.925 | 0.120 | 9 | 21974761 | missense variant | C/A;T | snv | 1 | |||
| rs36204594 | 1.000 | 0.040 | 9 | 21971180 | missense variant | G/A;T | snv | 1 | |||
| rs786204195 | 0.851 | 0.200 | 9 | 21974686 | missense variant | G/A;T | snv | 1 | |||
| rs876658220 | 1.000 | 0.040 | 9 | 21971147 | frameshift variant | T/- | delins | 1 | |||
| rs876658511 | 1.000 | 0.040 | 9 | 21971147 | frameshift variant | TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- | delins | 1 |