Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397514698 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 52 | |||
rs1557043622 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 46 | |||
rs1555575860 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 31 | |||
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs1568269273 | 0.807 | 0.320 | 19 | 13025433 | missense variant | G/A | snv | 18 | |||
rs139751598 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 13 | |
rs1553630457 | 0.882 | 0.240 | 3 | 30674231 | missense variant | T/C | snv | 8 | |||
rs1555696625 | 0.851 | 0.360 | 19 | 13025409 | missense variant | G/A | snv | 7 | |||
rs1555222973 | 0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins | 6 | |||
rs1555178899 | 0.925 | 12 | 48978757 | splice region variant | AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- | delins | 4 | ||||
rs1057518930 | 1.000 | 0.080 | 17 | 50197009 | splice donor variant | C/G | snv | 3 | |||
rs1567757138 | 1.000 | 0.120 | 17 | 50191446 | frameshift variant | A/- | del | 2 | |||
rs1555572315 | 17 | 50188740 | splice donor variant | A/T | snv | 1 |