Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554920808 | 1.000 | 0.120 | 11 | 2776991 | missense variant | A/G | snv | 3 | |||
rs199473442 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 3 | |||
rs104894252 | 1.000 | 0.120 | 11 | 2570715 | missense variant | G/A;C | snv | 1 | |||
rs104894255 | 1.000 | 0.120 | 11 | 2583459 | missense variant | G/A;C;T | snv | 1 | |||
rs1135401944 | 1.000 | 0.120 | 11 | 2588786 | frameshift variant | A/- | del | 1 | |||
rs120074180 | 1.000 | 0.120 | 11 | 2572882 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs120074182 | 1.000 | 0.120 | 11 | 2583448 | missense variant | C/T | snv | 1 | |||
rs120074183 | 1.000 | 0.120 | 11 | 2585213 | missense variant | G/A | snv | 1.4E-05 | 1 | ||
rs1325525794 | 1.000 | 0.120 | 11 | 2445453 | missense variant | G/A;C | snv | 1 | |||
rs140452381 | 1.000 | 0.120 | 11 | 2588815 | missense variant | C/T | snv | 8.0E-05 | 1.5E-04 | 1 | |
rs145974930 | 1.000 | 0.120 | 11 | 2768882 | missense variant | G/A;C | snv | 3.2E-05 | 1 | ||
rs1554894445 | 1.000 | 0.120 | 11 | 2583447 | missense variant | A/T | snv | 1 | |||
rs1554920580 | 1.000 | 0.120 | 11 | 2775977 | frameshift variant | -/ATGTG | delins | 1 | |||
rs1554958092 | 1.000 | 0.120 | 11 | 2445419 | missense variant | G/T | snv | 1 | |||
rs1564886349 | 1.000 | 0.120 | 11 | 2768852 | frameshift variant | A/- | delins | 1 | |||
rs17215479 | 1.000 | 0.120 | 11 | 2571363 | missense variant | G/A;T | snv | 1.2E-05 | 1 | ||
rs199472676 | 1.000 | 0.120 | 11 | 2445315 | missense variant | C/A;T | snv | 1.5E-04 | 1 | ||
rs199472679 | 1.000 | 0.120 | 11 | 2445442 | missense variant | A/G | snv | 1 | |||
rs199472681 | 1.000 | 0.120 | 11 | 2445463 | missense variant | G/A | snv | 1 | |||
rs199472682 | 1.000 | 0.120 | 11 | 2445479 | missense variant | C/A;T | snv | 9.3E-06 | 1 | ||
rs199472685 | 1.000 | 0.120 | 11 | 2527942 | missense variant | T/C | snv | 1 | |||
rs199472686 | 1.000 | 0.120 | 11 | 2527948 | missense variant | G/T | snv | 1 | |||
rs199472688 | 1.000 | 0.120 | 11 | 2527977 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs199472692 | 1.000 | 0.120 | 11 | 2570634 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 1 | |
rs199472694 | 1.000 | 0.120 | 11 | 2570664 | missense variant | G/A | snv | 5.2E-05; 4.0E-06 | 1.4E-05 | 1 |