Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1064794270 | 1 | 17028738 | splice acceptor variant | T/C | snv | 1 | |||||
| rs1131691047 | 1 | 17023976 | frameshift variant | C/- | del | 1 | |||||
| rs1131691050 | 1 | 17024005 | frameshift variant | -/GTTCC | delins | 1 | |||||
| rs1131691051 | 1 | 17033108 | missense variant | T/C | snv | 1 | |||||
| rs1131691053 | 1 | 17024009 | frameshift variant | -/T | delins | 1 | |||||
| rs1131691054 | 1 | 17033068 | missense variant | C/A | snv | 1 | |||||
| rs1131691057 | 1 | 17053948 | frameshift variant | -/T | delins | 1 | |||||
| rs1131691059 | 1 | 17024011 | frameshift variant | TCCACCAGTA/CC | delins | 1 | |||||
| rs1131691060 | 1 | 17027866 | splice acceptor variant | C/T | snv | 1 | |||||
| rs1228560456 | 1 | 17023981 | missense variant | G/A;C | snv | 1 | |||||
| rs1278834014 | 1 | 17023973 | missense variant | C/A;G;T | snv | 1 | |||||
| rs1553177290 | 1 | 17022720 | missense variant | C/G | snv | 1 | |||||
| rs1553177292 | 1 | 17022731 | splice acceptor variant | C/T | snv | 1 | |||||
| rs1553179337 | 1 | 17053977 | stop gained | -/GCAACCGGCGCCTCAAGGAGAGGGCG | delins | 1 | |||||
| rs1553179359 | 1 | 17053999 | frameshift variant | G/- | del | 1 | |||||
| rs397516834 | 1 | 17028608 | missense variant | G/A | snv | 1 | |||||
| rs587782904 | 1 | 17033143 | missense variant | C/T | snv | 1 | |||||
| rs786201085 | 1 | 17022615 | missense variant | C/T | snv | 1 | |||||
| rs794728949 | 1 | 17027808 | frameshift variant | C/- | delins | 1 | |||||
| rs876658451 | 1 | 17027844 | stop gained | G/A | snv | 1 | |||||
| rs876659330 | 1 | 17044758 | splice region variant | C/G | snv | 1 | |||||
| rs876659491 | 1 | 17027847 | frameshift variant | C/- | del | 1 | |||||
| rs876660368 | 1 | 17023967 | splice donor variant | CCTCACC/- | del | 1 | |||||
| rs876660642 | 1 | 17022660 | frameshift variant | A/- | delins | 4.0E-06 | 1 | ||||
| rs916516745 | 1 | 17022719 | stop gained | C/T | snv | 1 |