Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199473604 | 0.882 | 0.120 | 3 | 38560394 | missense variant | G/T | snv | 4 | |||
rs58327533 | 1.000 | 0.120 | 1 | 156114991 | missense variant | C/G;T | snv | 4 | |||
rs72554071 | 0.882 | 0.280 | 12 | 21765733 | missense variant | G/A;C | snv | 1.8E-03; 4.0E-06 | 4 | ||
rs773724817 | 0.925 | 0.160 | 7 | 150948861 | stop gained | G/A | snv | 4.0E-06 | 4 | ||
rs104893714 | 0.925 | 0.120 | 3 | 8745701 | missense variant | T/G | snv | 3 | |||
rs104893907 | 1.000 | 5 | 173232776 | stop gained | A/C;T | snv | 3 | ||||
rs120074195 | 0.925 | 0.120 | 11 | 2572984 | missense variant | G/A;C | snv | 3 | |||
rs121918602 | 0.925 | 0.120 | 1 | 237454396 | missense variant | T/C | snv | 3 | |||
rs121918606 | 0.925 | 0.080 | 1 | 237819181 | missense variant | C/G | snv | 3 | |||
rs1254179611 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 3 | |||
rs199473631 | 0.925 | 0.120 | 3 | 38551085 | missense variant | C/T | snv | 3 | |||
rs755373114 | 0.925 | 0.080 | 4 | 113341742 | missense variant | A/C | snv | 7.2E-05 | 3 | ||
rs794728721 | 0.925 | 0.080 | 1 | 237445489 | missense variant | G/A | snv | 3 | |||
rs1316189390 | 1.000 | 0.040 | 15 | 73343594 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs137854605 | 1.000 | 0.120 | 3 | 38581337 | missense variant | GA/TT | mnv | 2 | |||
rs199472762 | 1.000 | 0.120 | 11 | 2583540 | missense variant | C/T | snv | 2 | |||
rs199473256 | 1.000 | 0.120 | 3 | 38556460 | missense variant | A/C;G | snv | 2 | |||
rs199473283 | 1.000 | 0.120 | 3 | 38551495 | missense variant | C/A;G;T | snv | 4.0E-05 | 2 | ||
rs199473310 | 1.000 | 0.120 | 3 | 38551076 | missense variant | T/A;C;G | snv | 2 | |||
rs199473387 | 1.000 | 0.120 | 17 | 70175952 | missense variant | A/C;G | snv | 2 | |||
rs199473405 | 1.000 | 0.120 | 11 | 2585249 | missense variant | A/G | snv | 2 | |||
rs397508087 | 1.000 | 0.120 | 11 | 2588799 | frameshift variant | C/-;CC | delins | 2 | |||
rs779640835 | 1.000 | 0.040 | 1 | 237566723 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 2 | ||
rs794728425 | 1.000 | 0.120 | 7 | 150958220 | frameshift variant | -/GGCGATGGGAGCTGGCCGGG | delins | 2 | |||
rs794728470 | 1.000 | 0.120 | 7 | 150947367 | frameshift variant | -/TCGCCCCG | delins | 1.4E-05 | 2 |