Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908830 | 0.925 | 0.040 | 2 | 96254050 | stop gained | G/A | snv | 3 | |||
rs387906649 | 0.925 | 0.040 | 14 | 65102339 | start lost | T/C | snv | 3 | |||
rs121908164 | 1.000 | 0.040 | 1 | 10365476 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs121908814 | 0.925 | 0.040 | 2 | 96265379 | start lost | C/A;T | snv | 2 | |||
rs121908817 | 0.925 | 0.040 | 2 | 96265232 | frameshift variant | -/T | delins | 2 | |||
rs104894310 | 1.000 | 0.040 | 11 | 112086921 | stop gained | G/A | snv | 1 | |||
rs121908813 | 1.000 | 0.040 | 2 | 96265399 | 5 prime UTR variant | G/A | snv | 1 | |||
rs121908815 | 1.000 | 0.040 | 2 | 96265306 | stop gained | G/A | snv | 1 | |||
rs121908825 | 1.000 | 0.040 | 2 | 96254832 | splice donor variant | C/A | snv | 1 | |||
rs121908827 | 1.000 | 0.040 | 2 | 96254107 | missense variant | A/G | snv | 1 | |||
rs121908828 | 1.000 | 0.040 | 2 | 96254106 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs121908829 | 1.000 | 0.040 | 2 | 96254078 | stop gained | C/T | snv | 1 | |||
rs121908831 | 1.000 | 0.040 | 2 | 96253884 | frameshift variant | -/TCTGAGAGCAGCTC | delins | 4.0E-06 | 1 | ||
rs121917755 | 1.000 | 0.040 | 1 | 17028724 | missense variant | G/A;C | snv | 8.0E-06 | 1 | ||
rs74315371 | 1.000 | 0.040 | 1 | 17028721 | missense variant | C/T | snv | 1 | |||
rs864321636 | 1.000 | 0.040 | 1 | 17028685 | missense variant | C/G | snv | 1 | |||
rs864321637 | 1.000 | 0.040 | 1 | 17033095 | missense variant | T/G | snv | 1 | |||
rs864321638 | 1.000 | 0.040 | 1 | 17033119 | stop gained | A/C | snv | 1 | |||
rs864321639 | 1.000 | 0.040 | 1 | 17044822 | inframe deletion | ATCGATAGA/- | del | 1 | |||
rs864321640 | 1.000 | 0.040 | 3 | 10149908 | frameshift variant | -/A | delins | 1 | |||
rs864321641 | 1.000 | 0.040 | 3 | 10149802 | missense variant | A/T | snv | 1 | |||
rs864321644 | 1.000 | 0.040 | 11 | 112094873 | frameshift variant | T/- | delins | 1 | |||
rs876659329 | 1.000 | 0.040 | 1 | 17044767 | missense variant | A/G;T | snv | 1 | |||
rs1060503757 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 5 | |||
rs1131691049 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 5 |