Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387906623 | 0.882 | 0.120 | 15 | 48460258 | missense variant | C/T | snv | 3 | |||
rs111033552 | 0.925 | 0.120 | 6 | 116120105 | missense variant | A/G | snv | 1 | |||
rs387906918 | 0.925 | 0.120 | 16 | 88804027 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs75790268 | 0.925 | 0.120 | 4 | 1804377 | missense variant | G/T | snv | 1 | |||
rs80053154 | 0.925 | 0.120 | 4 | 1805636 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs1566902569 | 0.882 | 0.160 | 15 | 48460299 | missense variant | C/A | snv | 9 | |||
rs587777614 | 0.882 | 0.160 | 10 | 68416703 | frameshift variant | G/- | delins | 3 | |||
rs587779348 | 0.882 | 0.160 | 2 | 46623765 | frameshift variant | T/- | delins | 3 | |||
rs587779356 | 0.882 | 0.160 | 2 | 46619676 | frameshift variant | -/GG | delins | 3 | |||
rs759838407 | 0.925 | 0.160 | 13 | 108209756 | frameshift variant | AG/-;AGAG | delins | 3 | |||
rs121912889 | 0.851 | 0.160 | 12 | 47974234 | missense variant | T/C | snv | 2 | |||
rs121917883 | 0.851 | 0.160 | 3 | 172447803 | missense variant | G/A;T | snv | 2.8E-05 | 2 | ||
rs121909362 | 0.827 | 0.160 | 5 | 42699919 | missense variant | C/T | snv | 3.9E-03 | 4.1E-03 | 1 | |
rs121917843 | 0.882 | 0.160 | 5 | 177994231 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs137853221 | 0.925 | 0.160 | 17 | 63917803 | missense variant | T/C | snv | 1 | |||
rs137853222 | 0.925 | 0.160 | 17 | 63918072 | missense variant | C/A;G | snv | 1 | |||
rs137853223 | 0.851 | 0.160 | 17 | 63917337 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs1555545033 | 0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv | 1 | |||
rs886037910 | 0.925 | 0.160 | 5 | 42699943 | missense variant | T/C | snv | 1 | |||
rs1131691804 | 0.807 | 0.200 | 15 | 48463123 | missense variant | G/A | snv | 6 | |||
rs587779351 | 0.851 | 0.200 | 5 | 83105046 | missense variant | T/C | snv | 1.6E-05 | 6 | ||
rs121918010 | 0.827 | 0.200 | 1 | 21573781 | missense variant | T/C | snv | 7.2E-05 | 4.2E-05 | 3 | |
rs397514487 | 0.882 | 0.200 | 3 | 52149850 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
rs397514461 | 0.827 | 0.200 | Y | 640842 | missense variant | G/C | snv | 2 | |||
rs60310264 | 0.827 | 0.200 | 1 | 156130693 | missense variant | G/A | snv | 2 |