Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555144459 | 0.925 | 0.120 | 12 | 32841038 | frameshift variant | -/A | delins | 3 | |||
rs193922674 | 0.925 | 0.080 | 12 | 32802557 | splice acceptor variant | C/G | snv | 3.2E-05 | 2.8E-05 | 3 | |
rs397516997 | 0.925 | 0.080 | 12 | 32896581 | frameshift variant | TCTG/- | delins | 2.8E-05 | 3 | ||
rs869025496 | 0.925 | 0.080 | 12 | 32877845 | splice donor variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs1425855043 | 1.000 | 0.080 | 12 | 32878105 | stop gained | C/A | snv | 2 | |||
rs1555142963 | 12 | 32822477 | frameshift variant | TCCTGCTTCGACTGCCAAAACAT/- | delins | 1 | |||||
rs1565590176 | 12 | 32850767 | splice region variant | T/A | snv | 1 | |||||
rs1565590309 | 12 | 32850910 | stop gained | G/A | snv | 1 |