Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894303 | 1.000 | 0.160 | 11 | 112087910 | stop gained | C/T | snv | 2 | |||
rs104894304 | 0.827 | 0.240 | 11 | 112094831 | missense variant | A/G | snv | 6 | |||
rs104894306 | 0.882 | 0.200 | 11 | 112087868 | stop gained | C/T | snv | 4 | |||
rs104894307 | 0.851 | 0.200 | 11 | 112086908 | start lost | A/G;T | snv | 8.0E-06 | 5 | ||
rs104894308 | 0.882 | 0.200 | 11 | 112087933 | stop gained | G/A | snv | 4 | |||
rs104894309 | 0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 | 7 | ||
rs104895046 | 5 | 132588749 | stop gained | C/T | snv | 4.0E-06 | 1 | ||||
rs1049900772 | 11 | 108279546 | stop gained | A/G;T | snv | 1 | |||||
rs1054003194 | 2 | 47800892 | frameshift variant | GGG/-;GG;GGGG | delins | 2 | |||||
rs1057516238 | 1.000 | 0.200 | 11 | 108287599 | splice acceptor variant | G/T | snv | 2 | |||
rs1057516282 | 1.000 | 0.200 | 11 | 108365400 | frameshift variant | -/G | delins | 2 | |||
rs1057516291 | 0.925 | 0.120 | 9 | 95240655 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs1057516541 | 1.000 | 0.200 | 11 | 108284359 | frameshift variant | -/A | delins | 2 | |||
rs1057516553 | 1.000 | 0.200 | 11 | 108258984 | splice acceptor variant | A/G | snv | 2 | |||
rs1057516668 | 1.000 | 0.040 | 8 | 89946236 | frameshift variant | T/- | delins | 2 | |||
rs1057516772 | 1.000 | 0.040 | 8 | 89982719 | splice region variant | CAGGTTGGTTAC/- | delins | 2 | |||
rs1057516944 | 1.000 | 0.200 | 11 | 108267310 | frameshift variant | CA/- | del | 2 | |||
rs1057516981 | 1.000 | 0.200 | 11 | 108281133 | stop gained | A/T | snv | 2 | |||
rs1057517140 | 1.000 | 0.200 | 11 | 108287622 | frameshift variant | TACCAGAGATT/- | delins | 2 | |||
rs1057517209 | 1.000 | 0.040 | 8 | 89958724 | splice donor variant | C/G;T | snv | 2 | |||
rs1057517226 | 1.000 | 0.200 | 11 | 108282709 | splice acceptor variant | G/C | snv | 2 | |||
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
rs1057517539 | 1.000 | 0.080 | 16 | 23629214 | stop gained | G/T | snv | 2 | |||
rs1057517542 | 1.000 | 0.080 | 16 | 68829653 | splice acceptor variant | G/A | snv | 2 | |||
rs1057517551 | 1.000 | 0.160 | 2 | 47798890 | frameshift variant | -/T | delins | 3 |