Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72653794 | 0.882 | 0.280 | 16 | 16177622 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 9 | |
rs72664204 | 0.925 | 0.200 | 16 | 16203407 | splice donor variant | AC/- | delins | 4.0E-06 | 2.1E-05 | 9 | |
rs72664223 | 1.000 | 0.160 | 16 | 16221763 | frameshift variant | T/- | del | 4.1E-06 | 9 | ||
rs114303883 | 1.000 | 0.160 | 16 | 16182534 | stop gained | C/A;T | snv | 9.1E-05 | 4.2E-05 | 8 | |
rs1555513085 | 0.925 | 0.200 | 16 | 16182486 | frameshift variant | TCTC/- | delins | 8 | |||
rs72653788 | 1.000 | 0.160 | 16 | 16178935 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 | 8 | |
rs761433545 | 0.925 | 0.200 | 16 | 16187192 | missense variant | C/A;G;T | snv | 2.0E-05 | 8 | ||
rs1481200467 | 0.925 | 0.200 | 16 | 16173393 | stop gained | G/C;T | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs63749794 | 0.925 | 0.160 | 16 | 16163159 | missense variant | G/A | snv | 9.2E-05 | 4.2E-05 | 7 | |
rs63751111 | 1.000 | 0.160 | 16 | 16154873 | missense variant | C/G;T | snv | 8.1E-06 | 7 | ||
rs72653761 | 0.925 | 0.200 | 16 | 16202033 | missense variant | G/A | snv | 5.2E-05 | 6.3E-05 | 7 | |
rs72653783 | 1.000 | 0.160 | 16 | 16182566 | missense variant | T/G | snv | 4.0E-06 | 7 | ||
rs72664227 | 0.925 | 0.200 | 16 | 16182875 | frameshift variant | C/-;CC | delins | 7.0E-06 | 7 | ||
rs78678589 | 0.925 | 0.160 | 16 | 16203457 | missense variant | G/C;T | snv | 1.6E-05 | 7 | ||
rs1555512158 | 0.925 | 0.200 | 16 | 16177554 | missense variant | C/G | snv | 6 | |||
rs1555514467 | 1.000 | 0.160 | 16 | 16188897 | frameshift variant | AG/- | delins | 6 | |||
rs63750428 | 0.925 | 0.200 | 16 | 16154767 | missense variant | G/A;T | snv | 4.9E-05 | 6 | ||
rs72653769 | 1.000 | 0.160 | 16 | 16190315 | missense variant | A/T | snv | 8.0E-06 | 6 | ||
rs72653777 | 1.000 | 0.160 | 16 | 16187193 | missense variant | G/A | snv | 2.8E-05 | 4.2E-05 | 6 | |
rs72664203 | 1.000 | 0.160 | 16 | 16219948 | splice acceptor variant | C/G | snv | 6 | |||
rs72664239 | 0.925 | 0.200 | 16 | 16150646 | frameshift variant | C/- | delins | 6 | |||
rs749125777 | 1.000 | 0.160 | 16 | 16173287 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 6 | ||
rs769437554 | 0.925 | 0.200 | 16 | 16165784 | inframe deletion | AAG/- | delins | 1.2E-05 | 6 | ||
rs776513864 | 0.925 | 0.200 | 16 | 16178920 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 6 | ||
rs965791272 | 1.000 | 0.160 | 16 | 16155041 | non coding transcript exon variant | G/A;C;T | snv | 6 |