Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs767551092 | 0.790 | 0.200 | 3 | 14164838 | missense variant | G/A | snv | 4.0E-06 | 10 | ||
rs77907221 | 0.882 | 0.160 | 3 | 14154795 | intron variant | AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- | delins | 3 | |||
rs374117852 | 0.925 | 0.160 | 3 | 14152376 | stop gained | T/A | snv | 3.5E-05 | 2 | ||
rs74737358 | 0.925 | 0.160 | 3 | 14158882 | missense variant | G/A;T | snv | 8.1E-06; 2.6E-03 | 2 | ||
rs752088918 | 0.925 | 0.160 | 3 | 14167223 | frameshift variant | AT/- | delins | 2.4E-05 | 2.1E-05 | 2 | |
rs754532049 | 0.925 | 0.160 | 3 | 14158239 | frameshift variant | CA/- | delins | 2.0E-05 | 3.5E-05 | 2 | |
rs754673606 | 0.925 | 0.160 | 3 | 14148732 | splice acceptor variant | C/G;T | snv | 2.4E-05 | 2 | ||
rs757958943 | 0.925 | 0.160 | 3 | 14158640 | stop gained | G/A | snv | 1.2E-05 | 4.9E-05 | 2 | |
rs1208223013 | 1.000 | 0.160 | 3 | 14170440 | frameshift variant | -/C | delins | 4.0E-06 | 1 | ||
rs121965088 | 1.000 | 0.160 | 3 | 14158148 | stop gained | G/A | snv | 1.2E-05 | 1 | ||
rs1228981894 | 1.000 | 0.160 | 3 | 14170507 | frameshift variant | CT/- | delins | 4.0E-06 | 7.0E-06 | 1 | |
rs1260189637 | 1.000 | 0.160 | 3 | 14173038 | frameshift variant | G/- | delins | 1.4E-05 | 1 | ||
rs1281090187 | 1.000 | 0.160 | 3 | 14148665 | stop gained | G/A | snv | 1 | |||
rs1309116467 | 1.000 | 0.160 | 3 | 14148869 | frameshift variant | -/G | delins | 2.1E-05 | 1 | ||
rs1326646197 | 1.000 | 0.160 | 3 | 14167254 | splice acceptor variant | C/G | snv | 1 | |||
rs1330667099 | 1.000 | 0.160 | 3 | 14168370 | frameshift variant | CACT/- | delins | 1 | |||
rs1402162002 | 1.000 | 0.160 | 3 | 14168347 | frameshift variant | TC/- | delins | 1.2E-05 | 7.0E-06 | 1 | |
rs1423398589 | 1.000 | 0.160 | 3 | 14178465 | splice donor variant | C/A;T | snv | 1 | |||
rs1450238352 | 1.000 | 0.160 | 3 | 14158779 | frameshift variant | TT/- | del | 2.1E-05 | 1 | ||
rs1553604549 | 1.000 | 0.160 | 3 | 14148645 | frameshift variant | -/A | delins | 1 | |||
rs1553604552 | 1.000 | 0.160 | 3 | 14148650 | frameshift variant | -/G | delins | 1 |