Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1060499604 | 0.851 | 0.080 | 11 | 47339323 | splice donor variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs1060501436 | 0.925 | 0.040 | 14 | 23424815 | missense variant | A/G | snv | 2 | |||
rs1060501452 | 1.000 | 0.040 | 14 | 23429304 | missense variant | G/T | snv | 1 | |||
rs1060501474 | 0.925 | 0.080 | 11 | 47338563 | missense variant | G/T | snv | 4.0E-06 | 2 | ||
rs1060501478 | 1.000 | 0.040 | 11 | 47338549 | frameshift variant | T/- | del | 1 | |||
rs1060501479 | 1.000 | 0.040 | 11 | 47351465 | frameshift variant | -/C | ins | 1 | |||
rs1060501480 | 1.000 | 0.040 | 11 | 47332221 | frameshift variant | C/- | delins | 1 | |||
rs1060501481 | 1.000 | 0.040 | 11 | 47337420 | frameshift variant | -/TT | delins | 1 | |||
rs1060501484 | 1.000 | 0.040 | 11 | 47332576 | frameshift variant | C/- | delins | 1 | |||
rs1064792936 | 1.000 | 0.040 | 11 | 47351272 | frameshift variant | TGG/CCTCC | delins | 1 | |||
rs1064793202 | 0.925 | 0.080 | 11 | 47333622 | frameshift variant | -/TT | delins | 2 | |||
rs1064793206 | 0.925 | 0.040 | 14 | 23424993 | missense variant | G/A | snv | 2 | |||
rs111033560 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 9 | ||
rs111377893 | 0.925 | 0.080 | 1 | 201359622 | splice donor variant | C/A;G;T | snv | 2 | |||
rs111437311 | 0.925 | 0.080 | 11 | 47342576 | splice donor variant | A/G;T | snv | 2 | |||
rs111683277 | 0.925 | 0.080 | 11 | 47333556 | splice donor variant | C/G;T | snv | 4.2E-06 | 2 | ||
rs111729952 | 0.925 | 0.080 | 11 | 47337796 | splice acceptor variant | T/A;C;G | snv | 2 | |||
rs112738974 | 0.882 | 0.080 | 11 | 47338519 | splice donor variant | C/A;G;T | snv | 3 | |||
rs113188481 | 1.000 | 0.040 | 2 | 105363443 | missense variant | C/T | snv | 3.5E-03 | 1.4E-02 | 1 | |
rs113276889 | 1.000 | 0.040 | 11 | 47343146 | splice acceptor variant | C/A;T | snv | 1 | |||
rs113358486 | 0.925 | 0.080 | 11 | 47333555 | splice donor variant | A/C;G;T | snv | 8.4E-06 | 2 | ||
rs1157637439 | 0.882 | 0.120 | 6 | 30920187 | missense variant | A/G | snv | 4 | |||
rs116840799 | 1.000 | 0.040 | 3 | 8745599 | missense variant | C/G | snv | 2 | |||
rs116840805 | 0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv | 6 | |||
rs1172063879 | 1.000 | 0.040 | 17 | 37259427 | missense variant | C/T | snv | 4.0E-06 | 1 |