Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555178899 | 0.925 | 12 | 48978757 | splice region variant | AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- | delins | 4 | ||||
rs1557179325 | 0.925 | 0.080 | X | 154366562 | splice region variant | C/T | snv | 4 | |||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs1568070621 | 1.000 | 0.040 | 17 | 67918746 | frameshift variant | AG/- | delins | 4 | |||
rs1202430946 | 0.827 | 0.080 | 11 | 68930251 | non coding transcript exon variant | C/A;T | snv | 1.4E-05 | 17 | ||
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 47 | |
rs1555939456 | 0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv | 21 | |||
rs1131692231 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 13 | |||
rs1567263168 | 0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv | 10 | |||
rs751569508 | 1.000 | 17 | 16194473 | missense variant | G/A | snv | 2.5E-05 | 1.4E-05 | 5 | ||
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs113871094 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 34 | |||
rs1448259271 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 23 | |||
rs1555247672 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 14 | |||
rs132630297 | 0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv | 6 |