Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs113871094 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 34 | |||
rs387906846 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 19 | |||
rs1569301036 | 0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv | 17 | |||
rs875989803 | 0.827 | 0.200 | X | 41343249 | stop gained | G/T | snv | 15 | |||
rs1064797102 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 15 | |||
rs1555528356 | 0.790 | 0.360 | 16 | 89282836 | stop gained | G/A | snv | 13 | |||
rs763028380 | 0.851 | 0.320 | 11 | 17453271 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 12 | ||
rs760929207 | 0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 | 12 | |
rs1561881909 | 0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins | 9 | |||
rs1057518944 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 9 | |||
rs1559155954 | 0.851 | 0.200 | 2 | 219568211 | frameshift variant | -/A | delins | 9 | |||
rs139073416 | 0.882 | 0.240 | 1 | 26795056 | missense variant | C/A;T | snv | 1.2E-04 | 9 | ||
rs1554617582 | 0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins | 6 |