Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs121964858 | 0.807 | 0.120 | 1 | 201365244 | missense variant | A/C;G;T | snv | 6 | |||
rs397516456 | 0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs727504246 | 0.827 | 0.080 | 1 | 201363330 | missense variant | G/A | snv | 5 | |||
rs727504247 | 0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 | 5 | |
rs121964857 | 0.851 | 0.080 | 1 | 201359245 | missense variant | G/A | snv | 3.6E-04 | 4.3E-04 | 4 | |
rs267607581 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 4 | |||
rs727504245 | 0.851 | 0.080 | 1 | 201365261 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 4 | |
rs727504331 | 0.925 | 0.080 | 1 | 201365242 | missense variant | A/C | snv | 8.0E-06 | 2 | ||
rs397516482 | 1.000 | 0.080 | 1 | 201361286 | missense variant | T/A | snv | 7.0E-06 | 1 | ||
rs56851164 | 1.000 | 0.080 | 1 | 156135940 | missense variant | T/A | snv | 5.6E-05 | 8.4E-05 | 1 | |
rs730881115 | 1.000 | 0.080 | 1 | 201364336 | frameshift variant | G/- | delins | 9.1E-05 | 1 | ||
rs267607490 | 0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv | 6 | |||
rs121434594 | 0.827 | 0.160 | 3 | 12604189 | missense variant | G/A;C;T | snv | 5 | |||
rs199474703 | 0.851 | 0.120 | 3 | 46860702 | missense variant | C/T | snv | 8.0E-06 | 5 | ||
rs104893750 | 0.882 | 0.080 | 3 | 46859529 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 3 | |
rs727505017 | 0.882 | 0.200 | 3 | 12604201 | missense variant | A/G;T | snv | 3 | |||
rs104893748 | 0.925 | 0.080 | 3 | 46859511 | missense variant | T/C | snv | 2 | |||
rs6577641 | 1.000 | 0.080 | 3 | 18356357 | intron variant | C/A;G;T | snv | 1 | |||
rs730880162 | 1.000 | 0.080 | 3 | 46859509 | missense variant | C/A;T | snv | 1 | |||
rs869025485 | 1.000 | 0.080 | 3 | 46859573 | missense variant | C/T | snv | 1 | |||
rs869025501 | 1.000 | 0.080 | 3 | 12604191 | missense variant | G/A | snv | 1 | |||
rs4863687 | 0.925 | 0.120 | 4 | 139757127 | intron variant | C/T | snv | 0.24 | 2 | ||
rs1240681880 | 0.882 | 0.160 | 6 | 38722870 | missense variant | G/A | snv | 2.1E-05 | 3 |