Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs762890562 | 0.925 | 0.040 | 5 | 177515944 | stop gained | -/CATC | delins | 8.7E-05 | 7.0E-05 | 2 | |
rs1057519726 | 1.000 | 0.040 | 13 | 28018502 | missense variant | T/A;C;G | snv | 1 | |||
rs1057519744 | 1.000 | 0.040 | 5 | 171410542 | frameshift variant | -/CATG;CCTG;TCAG;TCTG | ins | 1 | |||
rs1057519745 | 1.000 | 0.040 | 11 | 32396363 | frameshift variant | -/ACCGTACA | ins | 1 | |||
rs1057519749 | 1.000 | 0.040 | 21 | 34880579 | missense variant | C/A;G | snv | 1 | |||
rs1057519750 | 1.000 | 0.040 | 21 | 34880580 | missense variant | C/T | snv | 1 | |||
rs1057519755 | 1.000 | 0.040 | 2 | 197402108 | missense variant | T/A;G | snv | 1 | |||
rs1057519756 | 1.000 | 0.040 | 2 | 197402109 | missense variant | T/A;C;G | snv | 1 | |||
rs1057519762 | 1.000 | 0.040 | 13 | 28018484 | missense variant | A/G | snv | 1 | |||
rs1057519763 | 1.000 | 0.040 | 13 | 28018504 | missense variant | TC/AA | mnv | 1 | |||
rs1057519764 | 1.000 | 0.040 | 13 | 28027222 | missense variant | A/C;T | snv | 1 | |||
rs1057519765 | 1.000 | 0.040 | 13 | 28027236 | missense variant | T/A;C | snv | 4.0E-06 | 1 | ||
rs1057519767 | 1.000 | 0.040 | 13 | 28028205 | missense variant | T/C | snv | 1 | |||
rs1057519768 | 1.000 | 0.040 | 13 | 28028279 | missense variant | T/C | snv | 1 | |||
rs1057519769 | 1.000 | 0.040 | 13 | 28033974 | missense variant | C/A | snv | 1 | |||
rs1057520021 | 1.000 | 0.040 | 13 | 28034139 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
rs1057520022 | 1.000 | 0.040 | 13 | 28034183 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs1057520023 | 1.000 | 0.040 | 13 | 28018501 | missense variant | A/C | snv | 1 | |||
rs1057520024 | 1.000 | 0.040 | 13 | 28034147 | missense variant | T/C | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs1057520025 | 1.000 | 0.040 | 13 | 28034144 | missense variant | A/G | snv | 1 | |||
rs1057520026 | 0.925 | 0.040 | 13 | 28028244 | missense variant | T/G | snv | 1 | |||
rs1057520043 | 1.000 | 0.040 | 13 | 28034148 | missense variant | A/C | snv | 1 | |||
rs1060502121 | 1.000 | 0.040 | 19 | 33302225 | frameshift variant | TGTCG/- | del | 1 | |||
rs121434637 | 1.000 | 0.040 | 12 | 11839202 | stop gained | G/T | snv | 1 | |||
rs121912791 | 1.000 | 0.040 | 19 | 33302267 | stop gained | C/A | snv | 1 |