Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554902217 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 7 | |||
rs886041487 | 1.000 | 0.120 | 11 | 6616451 | frameshift variant | AT/- | del | 1 | |||
rs1057516264 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 13 | |||
rs1554901898 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 12 | |||
rs878855331 | 0.925 | 0.120 | 11 | 6617319 | splice donor variant | AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- | delins | 5 | |||
rs1554902216 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 2 | |||
rs1057516366 | 1.000 | 0.120 | 11 | 6617052 | frameshift variant | -/A | delins | 1 | |||
rs1057516579 | 1.000 | 0.120 | 11 | 6614576 | frameshift variant | -/G | delins | 1 | |||
rs1057517313 | 1.000 | 0.120 | 11 | 6616728 | frameshift variant | G/- | delins | 1 | |||
rs1407106889 | 1.000 | 0.120 | 11 | 6615203 | frameshift variant | GT/- | delins | 1 | |||
rs1554901463 | 1.000 | 0.120 | 11 | 6614617 | frameshift variant | GACCAGAGCAG/- | delins | 1 | |||
rs1554901576 | 1.000 | 0.120 | 11 | 6615228 | frameshift variant | GA/- | delins | 1 | |||
rs1554901580 | 1.000 | 0.120 | 11 | 6615251 | inframe insertion | -/CGGCCACTGGCA | delins | 1 | |||
rs1554902043 | 1.000 | 0.120 | 11 | 6617386 | stop gained | -/T | delins | 1 | |||
rs1554902085 | 1.000 | 0.120 | 11 | 6617648 | frameshift variant | -/A | delins | 1 | |||
rs778232650 | 1.000 | 0.120 | 11 | 6616411 | frameshift variant | CATAGCTC/- | delins | 4.0E-06 | 1 | ||
rs864309505 | 0.807 | 0.200 | 11 | 6615220 | missense variant | T/G | snv | 10 | |||
rs56144125 | 0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 | 6 | ||
rs1564855725 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 5 | |||
rs553522118 | 0.882 | 0.160 | 11 | 6617338 | stop gained | G/A;T | snv | 5 | |||
rs119455955 | 0.851 | 0.120 | 11 | 6617040 | stop gained | G/A | snv | 2.2E-04 | 2.4E-04 | 4 | |
rs796053439 | 0.925 | 0.240 | 11 | 6616714 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs119455957 | 0.882 | 0.120 | 11 | 6616696 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs756564767 | 0.882 | 0.120 | 11 | 6617627 | stop gained | G/A | snv | 6.4E-05 | 4.2E-05 | 3 | |
rs1057516945 | 0.925 | 0.160 | 11 | 6616973 | splice donor variant | A/C | snv | 2 |