Source: BEFREE
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 12 | ||
rs28934906 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 8 | |||
rs61751362 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 7 | ||
rs28934904 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 5 | |||
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 4 | |||
rs61748421 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 4 | |||
rs61751364 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 4 | |||
rs179363901 | 0.882 | 0.120 | X | 154097661 | missense variant | G/A | snv | 3 | |||
rs61748411 | 0.925 | 0.120 | X | 154031356 | missense variant | T/C | snv | 3 | |||
rs61749721 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 3 | |||
rs61749735 | 0.925 | 0.200 | X | 154031162 | synonymous variant | G/A;C | snv | 5.4E-06; 3.8E-05 | 3 | ||
rs61750240 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 3 | ||
rs267608475 | 0.925 | 0.120 | X | 154031415 | stop gained | A/G;T | snv | 2 | |||
rs267608563 | 0.925 | 0.080 | X | 154030763 | missense variant | G/A;T | snv | 2 | |||
rs267608597 | 0.882 | 0.080 | X | 154030665 | stop gained | GG/TA | mnv | 2 | |||
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 2 | |||
rs61748389 | 1.000 | 0.080 | X | 154031430 | missense variant | C/A;T | snv | 2 | |||
rs61748404 | 0.882 | 0.120 | X | 154031373 | missense variant | G/C;T | snv | 2 | |||
rs61748420 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 2 | |||
rs61749738 | 1.000 | 0.080 | X | 154031145 | missense variant | G/C | snv | 7.4E-04 | 2.9E-03 | 2 | |
rs61751367 | 0.925 | 0.080 | X | 154030939 | stop gained | G/A | snv | 2 | |||
rs61751444 | 0.882 | 0.080 | X | 154030903 | missense variant | G/A | snv | 2 | |||
rs61751457 | 0.925 | 0.080 | X | 154030799 | frameshift variant | C/-;CC | delins | 2 | |||
rs61752361 | 0.925 | 0.080 | X | 154030798 | missense variant | G/A;C | snv | 3.8E-05 | 2 | ||
rs179363900 | 0.807 | 0.080 | X | 154031374 | missense variant | G/C | snv | 5.5E-06 | 1.9E-05 | 1 |