Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516582 | 1.000 | 0.120 | 8 | 1771317 | frameshift variant | A/- | del | 1 | |||
rs1057516867 | 1.000 | 0.120 | 8 | 1771101 | frameshift variant | T/- | del | 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 | |||
rs28940569 | 1.000 | 0.120 | 8 | 1780495 | missense variant | G/C | snv | 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 | |||
rs386834126 | 1.000 | 0.120 | 8 | 1771374 | missense variant | T/G | snv | 1 | |||
rs386834128 | 1.000 | 0.120 | 8 | 1771518 | missense variant | C/A;T | snv | 1 | |||
rs386834132 | 1.000 | 0.120 | 8 | 1780265 | frameshift variant | CT/- | delins | 1 | |||
rs386834133 | 1.000 | 0.120 | 8 | 1780287 | missense variant | A/G | snv | 1 | |||
rs386834135 | 1.000 | 0.120 | 8 | 1780339 | inframe deletion | TGG/- | delins | 1 | |||
rs386834138 | 1.000 | 0.120 | 8 | 1780472 | missense variant | C/G | snv | 1 | |||
rs386834139 | 1.000 | 0.120 | 8 | 1771142 | frameshift variant | G/- | del | 1 | |||
rs759830733 | 1.000 | 0.120 | 8 | 1771337 | stop gained | A/T | snv | 7.0E-06 | 1 | ||
rs34238807 | 1.000 | 0.120 | 8 | 1771116 | frameshift variant | G/-;GG | delins | 4.0E-06 | 1 | ||
rs386834129 | 1.000 | 0.120 | 8 | 1771100 | missense variant | C/A;G;T | snv | 2.0E-05; 4.0E-06 | 1 | ||
rs386834127 | 1.000 | 0.120 | 8 | 1771469 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs746397087 | 1.000 | 0.120 | 8 | 1780469 | stop gained | C/T | snv | 4.0E-06 | 1 |