Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199473442 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 3 | |||
rs199473443 | 1.000 | 0.120 | 11 | 2445117 | missense variant | C/T | snv | 1.7E-04 | 1 | ||
rs199473671 | 1.000 | 0.120 | 11 | 2445234 | missense variant | G/A | snv | 6.0E-05 | 6.5E-05 | 1 | |
rs199473446 | 1.000 | 0.120 | 11 | 2445295 | missense variant | C/A;T | snv | 5.0E-05 | 1 | ||
rs199472676 | 1.000 | 0.120 | 11 | 2445315 | missense variant | C/A;T | snv | 1.5E-04 | 1 | ||
rs1554958092 | 1.000 | 0.120 | 11 | 2445419 | missense variant | G/T | snv | 1 | |||
rs199472678 | 0.925 | 0.120 | 11 | 2445430 | missense variant | A/G | snv | 8.9E-06 | 1 | ||
rs199472679 | 1.000 | 0.120 | 11 | 2445442 | missense variant | A/G | snv | 1 | |||
rs886037906 | 1.000 | 0.120 | 11 | 2445447 | missense variant | C/T | snv | 1 | |||
rs120074191 | 0.925 | 0.120 | 11 | 2445448 | missense variant | C/T | snv | 1 | |||
rs1325525794 | 1.000 | 0.120 | 11 | 2445453 | missense variant | G/A;C | snv | 1 | |||
rs397508109 | 1.000 | 0.120 | 11 | 2445461 | frameshift variant | -/T | delins | 2.3E-05 | 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 | ||
rs199473449 | 1.000 | 0.120 | 11 | 2527938 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 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 | |||
rs199473450 | 1.000 | 0.120 | 11 | 2527950 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs794728566 | 1.000 | 0.120 | 11 | 2527966 | frameshift variant | T/- | del | 1 | |||
rs199473451 | 0.925 | 0.120 | 11 | 2527971 | missense variant | A/G | snv | 2 | |||
rs199472688 | 1.000 | 0.120 | 11 | 2527977 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs143709408 | 0.882 | 0.200 | 11 | 2527999 | missense variant | C/T | snv | 1.6E-04 | 3.6E-04 | 5 | |
rs199472690 | 0.925 | 0.120 | 11 | 2528011 | missense variant | T/G | snv | 1 | |||
rs762814879 | 0.925 | 0.120 | 11 | 2528019 | splice donor variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs397508111 | 0.882 | 0.120 | 11 | 2528023 | splice region variant | G/A;C | snv | 1.2E-05 | 3 |