Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587779411 | 0.851 | 0.160 | 8 | 1780498 | missense variant | C/G;T | snv | 4.0E-06 | 5 | ||
rs143730802 | 0.882 | 0.160 | 8 | 1771055 | start lost | A/G | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs386834124 | 0.925 | 0.120 | 8 | 1771263 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 4 | |
rs104894060 | 0.882 | 0.120 | 8 | 1780316 | missense variant | C/T | snv | 3.2E-05 | 7.0E-06 | 3 | |
rs104894064 | 0.882 | 0.120 | 8 | 1771124 | missense variant | C/G;T | snv | 1.0E-04; 2.4E-05 | 3 | ||
rs144495588 | 0.925 | 0.120 | 8 | 1771553 | stop gained | G/C;T | snv | 8.0E-06; 1.2E-05 | 2 | ||
rs1057516582 | 1.000 | 0.120 | 8 | 1771317 | frameshift variant | A/- | del | 1 | |||
rs1057516867 | 1.000 | 0.120 | 8 | 1771101 | frameshift variant | T/- | del | 1 | |||
rs137852883 | 1.000 | 0.120 | 8 | 1771142 | missense variant | G/A;C;T | snv | 4.0E-06; 2.4E-05 | 1 | ||
rs139003032 | 1.000 | 0.120 | 8 | 1780512 | missense variant | A/G;T | snv | 2.0E-05; 3.3E-04 | 1 | ||
rs142269885 | 1.000 | 0.120 | 8 | 1771428 | missense variant | A/C;G;T | snv | 9.7E-04 | 1 | ||
rs149308952 | 1.000 | 0.120 | 8 | 1771524 | missense variant | A/G | snv | 1.6E-05 | 2.8E-05 | 1 | |
rs1554448874 | 1.000 | 0.120 | 8 | 1771056 | start lost | T/C | snv | 1 | |||
rs1554448924 | 1.000 | 0.120 | 8 | 1771104 | frameshift variant | A/- | del | 1 | |||
rs1554449028 | 1.000 | 0.120 | 8 | 1771257 | frameshift variant | C/- | delins | 1 | |||
rs1554449047 | 1.000 | 0.120 | 8 | 1771280 | stop gained | C/T | snv | 1 | |||
rs1554449124 | 1.000 | 0.120 | 8 | 1771360 | stop gained | G/A | snv | 1 | |||
rs1554449136 | 1.000 | 0.120 | 8 | 1771366 | stop gained | G/A | snv | 1 | |||
rs1554451484 | 1.000 | 0.120 | 8 | 1780248 | splice acceptor variant | A/G | snv | 1 | |||
rs1554451504 | 1.000 | 0.120 | 8 | 1780299 | frameshift variant | T/- | delins | 1 | |||
rs188259026 | 1.000 | 0.120 | 8 | 1771563 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
rs28940569 | 1.000 | 0.120 | 8 | 1780495 | missense variant | G/C | snv | 1 | |||
rs34238807 | 1.000 | 0.120 | 8 | 1771116 | frameshift variant | G/-;GG | delins | 4.0E-06 | 1 | ||
rs386834123 | 1.000 | 0.120 | 8 | 1771233 | inframe deletion | AAG/- | delins | 1 | |||
rs386834125 | 1.000 | 0.120 | 8 | 1771281 | missense variant | A/G | snv | 1 |