Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs74315442 | 0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 10 | |
rs35993949 | 0.882 | 0.040 | 8 | 67506804 | missense variant | G/C | snv | 1.5E-03 | 1.2E-03 | 9 | |
rs61738009 | 0.827 | 0.080 | 8 | 67483807 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-03 | 2.5E-03 | 9 | |
rs765965968 | 0.882 | 0.080 | 16 | 2498333 | missense variant | G/A;T | snv | 1.3E-05; 4.2E-06 | 4 | ||
rs397514737 | 0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv | 3 | |||
rs886039266 | 0.925 | 0.040 | 22 | 31870703 | frameshift variant | A/- | del | 2 | |||
rs397518465 | 0.925 | 0.040 | 16 | 9937958 | splice donor variant | C/A;T | snv | 2 | |||
rs121918817 | 0.882 | 0.040 | 2 | 166045080 | missense variant | C/T | snv | 1.7E-03 | 1.5E-03 | 2 | |
rs147896487 | 1.000 | 0.040 | 8 | 18084767 | missense variant | C/G | snv | 1.3E-03 | 1.5E-03 | 1 | |
rs1555437424 | 1.000 | 0.040 | 15 | 92924407 | missense variant | G/A | snv | 1 | |||
rs1555445693 | 1.000 | 0.040 | 15 | 93014832 | missense variant | C/T | snv | 1 | |||
rs755898320 | 1.000 | 0.040 | 15 | 93009265 | missense variant | C/T | snv | 2.0E-05 | 6.3E-05 | 1 | |
rs369675346 | 1.000 | 0.040 | 7 | 147120974 | splice region variant | C/A;T | snv | 8.0E-06; 2.7E-04 | 1 | ||
rs758630057 | 1.000 | 0.040 | 7 | 148147587 | missense variant | G/A | snv | 4.7E-04 | 4.7E-04 | 1 | |
rs1383795440 | 1.000 | 0.040 | 22 | 31754865 | 5 prime UTR variant | G/C | snv | 7.0E-06 | 1 | ||
rs1555897392 | 1.000 | 0.040 | 22 | 31838822 | protein altering variant | -/AGA | ins | 1 | |||
rs187334123 | 1.000 | 0.040 | 22 | 31797646 | missense variant | G/A;T | snv | 2.2E-03; 1.6E-05 | 1 | ||
rs768456731 | 0.925 | 0.040 | 22 | 31765049 | missense variant | G/A;T | snv | 1.6E-05 | 1 | ||
rs1554263366 | 1.000 | 0.040 | 6 | 145686284 | missense variant | T/C | snv | 1 | |||
rs1554098235 | 1.000 | 0.040 | 5 | 162104026 | missense variant | G/A | snv | 1 | |||
rs750459631 | 1.000 | 0.040 | 5 | 162101232 | splice region variant | T/G | snv | 3.6E-05 | 4.9E-05 | 1 | |
rs1554770659 | 1.000 | 0.040 | 9 | 137163819 | missense variant | T/C | snv | 1 | |||
rs1238779318 | 1.000 | 0.040 | 16 | 9938274 | missense variant | C/G;T | snv | 1 | |||
rs1250662891 | 0.925 | 0.040 | 16 | 10180176 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs1555482933 | 0.925 | 0.040 | 16 | 9764834 | missense variant | T/A | snv | 1 |