Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553154130 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 18 | |||
rs878853161 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 7 | |||
rs139194636 | 0.882 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 | 6 | |
rs757600616 | 0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 | 6 | ||
rs869312671 | 0.882 | 0.160 | 1 | 11144735 | missense variant | C/T | snv | 5 | |||
rs869312689 | 0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv | 5 | |||
rs869312666 | 0.925 | 0.160 | 1 | 11129789 | missense variant | A/C | snv | 4 | |||
rs794727870 | 0.925 | 0.160 | 1 | 42929244 | missense variant | G/A;T | snv | 3 | |||
rs869312704 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 10 | |||
rs1553546045 | 0.925 | 0.200 | 2 | 208442425 | missense variant | C/T | snv | 5 | |||
rs869312663 | 0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv | 5 | |||
rs794726710 | 0.882 | 0.160 | 2 | 166013812 | stop gained | G/A | snv | 4 | |||
rs869312664 | 0.925 | 0.160 | 2 | 165386920 | stop gained | G/A;T | snv | 4 | |||
rs875989830 | 0.925 | 0.200 | 2 | 199348742 | frameshift variant | AC/- | delins | 4 | |||
rs878853163 | 0.925 | 0.200 | 2 | 199323850 | stop gained | T/A;C | snv | 4 | |||
rs869312670 | 0.925 | 0.160 | 2 | 166013745 | frameshift variant | A/- | del | 3 | |||
rs1559759089 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 14 | |||
rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 12 | |
rs72555360 | 0.807 | 0.280 | 3 | 33058221 | missense variant | G/A | snv | 4.4E-05 | 6.3E-05 | 8 | |
rs371582179 | 0.827 | 0.280 | 3 | 33014057 | missense variant | T/C | snv | 3.6E-05 | 6.3E-05 | 7 | |
rs1085307451 | 0.925 | 0.160 | 3 | 47848246 | missense variant | C/T | snv | 4 | |||
rs1553654413 | 0.925 | 0.240 | 3 | 4627877 | splice region variant | CGTA/- | delins | 4 | |||
rs886039903 | 0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv | 4 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs886041097 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 9 |