Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1400419650 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 38 | |
rs1555386022 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 38 | |||
rs137853027 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 15 | |
rs121908425 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 14 | ||
rs753317536 | 0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 12 | ||
rs1565329461 | 0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv | 9 | |||
rs371011047 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 9 | ||
rs764926983 | 0.882 | 0.120 | 11 | 103287559 | synonymous variant | G/A | snv | 1.2E-05 | 9 | ||
rs771148519 | 0.807 | 0.200 | 4 | 39225027 | stop gained | C/G | snv | 1.7E-05 | 1.4E-05 | 9 | |
rs752659088 | 0.882 | 0.240 | 17 | 6624770 | synonymous variant | G/A | snv | 6.5E-05 | 8 | ||
rs1565311145 | 0.882 | 0.120 | 11 | 103116677 | stop gained | T/A | snv | 7 | |||
rs767846762 | 0.882 | 0.120 | 11 | 103176241 | frameshift variant | AA/- | delins | 1.0E-05 | 7 | ||
rs1565317399 | 0.882 | 0.120 | 11 | 103122879 | stop gained | C/T | snv | 6 | |||
rs376892534 | 0.925 | 0.120 | 11 | 103184880 | intron variant | G/A | snv | 8.1E-06 | 6 | ||
rs1566883760 | 0.925 | 0.120 | 14 | 58487978 | frameshift variant | T/- | delins | 5 | |||
rs747165335 | 0.882 | 0.200 | 4 | 39278156 | frameshift variant | ACGG/- | delins | 8.4E-06 | 5 |