Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1040441824 | 0.882 | 0.200 | 11 | 112233502 | missense variant | A/G | snv | 2.1E-05 | 4 | ||
rs104894275 | 0.882 | 0.120 | 11 | 112228665 | missense variant | A/G | snv | 1.2E-04 | 7.0E-06 | 3 | |
rs104894276 | 0.882 | 0.120 | 11 | 112233178 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-05 | 3 | ||
rs104894277 | 0.925 | 0.120 | 11 | 112230210 | missense variant | G/A;C | snv | 1.6E-05; 8.0E-06 | 2 | ||
rs104894278 | 0.925 | 0.120 | 11 | 112228649 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs104894279 | 0.925 | 0.120 | 11 | 112233464 | missense variant | A/G | snv | 7.0E-06 | 2 | ||
rs104894280 | 0.925 | 0.120 | 11 | 112233205 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1167104933 | 0.925 | 0.120 | 11 | 112226516 | stop gained | C/G;T | snv | 2 | |||
rs200712908 | 0.925 | 0.120 | 11 | 112233434 | missense variant | C/T | snv | 1.2E-04 | 9.8E-05 | 2 | |
rs146727601 | 1.000 | 0.040 | 11 | 112247868 | intron variant | AT/-;ATAT | delins | 5.3E-02 | 1 | ||
rs104894273 | 1.000 | 0.120 | 11 | 112226517 | missense variant | G/A | snv | 1 | |||
rs104894274 | 1.000 | 0.120 | 11 | 112226489 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs1230781262 | 1.000 | 0.120 | 11 | 112228591 | splice region variant | C/G;T | snv | 2.4E-04 | 1 | ||
rs1256819927 | 1.000 | 0.120 | 11 | 112230231 | splice donor variant | G/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1317230624 | 1.000 | 0.120 | 11 | 112226521 | missense variant | G/T | snv | 1.0E-05 | 1 | ||
rs1328320990 | 1.000 | 0.120 | 11 | 112228614 | missense variant | A/G | snv | 1.4E-05 | 1 | ||
rs1449216377 | 1.000 | 0.120 | 11 | 112228618 | missense variant | C/G | snv | 4.1E-06 | 1 | ||
rs145882709 | 1.000 | 0.120 | 11 | 112233216 | stop gained | C/A | snv | 2.8E-05 | 1.4E-05 | 1 | |
rs150726932 | 1.000 | 0.120 | 11 | 112233487 | missense variant | G/T | snv | 7.2E-05 | 2.8E-05 | 1 | |
rs1555198165 | 1.000 | 0.120 | 11 | 112229367 | non coding transcript exon variant | AAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGAGT/- | delins | 1 | |||
rs1555198233 | 1.000 | 0.120 | 11 | 112230206 | splice acceptor variant | A/G | snv | 1 | |||
rs1555198263 | 1.000 | 0.120 | 11 | 112230664 | frameshift variant | TC/- | delins | 1 | |||
rs1555198451 | 1.000 | 0.120 | 11 | 112233162 | splice acceptor variant | G/T | snv | 1 | |||
rs1555198458 | 1.000 | 0.120 | 11 | 112233215 | missense variant | A/G | snv | 1 | |||
rs1555198462 | 1.000 | 0.120 | 11 | 112233234 | splice donor variant | G/C | snv | 1 |