Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1254113735 | 12 | 32822599 | missense variant | G/C | snv | 1 | |||||
rs370819854 | 3 | 38551456 | missense variant | C/G | snv | 8.0E-06 | 1 | ||||
rs1204372364 | 1.000 | 0.120 | 4 | 113355900 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs35530544 | 1.000 | 0.080 | 4 | 113367751 | missense variant | C/A | snv | 2.5E-03 | 1.0E-02 | 2 | |
rs1355262401 | 1.000 | 0.080 | 6 | 121447691 | missense variant | T/G | snv | 7.0E-06 | 2 | ||
rs1316189390 | 1.000 | 0.040 | 15 | 73343594 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs199473024 | 7 | 150947362 | missense variant | T/C | snv | 7.0E-06 | 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 | ||
rs794728508 | 1.000 | 0.120 | 7 | 150974864 | frameshift variant | A/- | del | 2 | |||
rs199473387 | 1.000 | 0.120 | 17 | 70175952 | missense variant | A/C;G | snv | 2 | |||
rs199472762 | 1.000 | 0.120 | 11 | 2583540 | missense variant | C/T | 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 | |||
rs79023478 | 1.000 | 0.040 | 1 | 228315865 | missense variant | G/A | snv | 8.4E-03 | 3.0E-02 | 2 | |
rs199601548 | 1.000 | 0.080 | 12 | 32896548 | missense variant | G/T | snv | 1.4E-04 | 4.0E-04 | 2 | |
rs779640835 | 1.000 | 0.040 | 1 | 237566723 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 2 | ||
rs879253730 | 11 | 123642468 | missense variant | G/C | snv | 2 | |||||
rs137854605 | 1.000 | 0.120 | 3 | 38581337 | missense variant | GA/TT | mnv | 2 | |||
rs184442491 | 1.000 | 0.120 | 3 | 38603888 | missense variant | C/A | snv | 2.1E-04 | 7.7E-04 | 2 | |
rs199473142 | 1.000 | 0.120 | 3 | 38597952 | missense variant | C/T | snv | 2.1E-05 | 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 | |||
rs199473580 | 1.000 | 0.120 | 3 | 38597926 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 2 |