Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912854 | 0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 16 | |
rs121912855 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 16 | |
rs121912856 | 0.732 | 0.120 | 3 | 48593538 | missense variant | T/C | snv | 3.2E-05 | 9.1E-05 | 13 | |
rs144023803 | 0.776 | 0.120 | 3 | 48590721 | stop gained | G/A | snv | 3.6E-05 | 2.1E-05 | 9 | |
rs762162799 | 0.776 | 0.120 | 3 | 48575437 | missense variant | C/G;T | snv | 8.6E-06; 4.3E-06; 3.0E-05 | 8 | ||
rs886058642 | 0.776 | 0.120 | 3 | 48590817 | splice acceptor variant | C/T | snv | 8 | |||
rs1203706188 | 0.790 | 0.120 | 3 | 48593554 | stop gained | G/A;T | snv | 7.0E-06 | 7 | ||
rs200972872 | 0.790 | 0.120 | 3 | 48576249 | splice region variant | C/T | snv | 8.8E-05 | 9.8E-05 | 7 | |
rs201728948 | 0.790 | 0.120 | 3 | 48570639 | splice region variant | C/T | snv | 3.0E-05 | 5.6E-05 | 7 | |
rs368007918 | 0.790 | 0.120 | 3 | 48591527 | stop gained | G/A | snv | 8.0E-06 | 7 | ||
rs761234904 | 0.790 | 0.120 | 3 | 48584754 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 7 | |
rs121912839 | 0.882 | 0.120 | 3 | 48572712 | missense variant | C/T | snv | 3 | |||
rs1055680335 | 0.925 | 0.080 | 3 | 48575497 | missense variant | G/A;C | snv | 4.1E-06 | 2 | ||
rs121912833 | 0.925 | 0.080 | 3 | 48584742 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 2 | ||
rs121912840 | 0.925 | 0.120 | 3 | 48581483 | missense variant | C/G | snv | 2 | |||
rs121912843 | 0.925 | 0.080 | 3 | 48575475 | missense variant | C/T | snv | 4.1E-06 | 2 | ||
rs1368134215 | 0.925 | 0.080 | 3 | 48575673 | stop gained | G/A | snv | 2 | |||
rs142566193 | 0.925 | 0.080 | 3 | 48566303 | missense variant | G/A | snv | 1.1E-03 | 1.1E-03 | 2 | |
rs1553612617 | 1.000 | 0.080 | 3 | 48586983 | stop gained | G/A | snv | 2 | |||
rs1559435706 | 1.000 | 0.080 | 3 | 48591936 | frameshift variant | T/- | del | 2 | |||
rs121912841 | 0.925 | 0.120 | 3 | 48578497 | missense variant | C/G;T | snv | 2 | |||
rs143457874 | 0.925 | 0.080 | 3 | 48565636 | stop gained | G/A | snv | 4.0E-06 | 2.8E-05 | 2 | |
rs1032335328 | 0.925 | 0.080 | 3 | 48579271 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs372166543 | 0.925 | 0.080 | 3 | 48565160 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 2 | ||
rs1057517724 | 1.000 | 0.080 | 3 | 48576771 | missense variant | C/G | snv | 1 |