Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs324148 | 0.882 | 0.280 | 6 | 44228841 | intron variant | T/C | snv | 0.78 | 3 | ||
rs104894865 | 1.000 | 0.200 | X | 10567205 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 1 | ||
rs104894866 | 1.000 | 0.200 | X | 10482609 | missense variant | A/G | snv | 1 | |||
rs1555894390 | 1.000 | 0.200 | X | 10482571 | frameshift variant | G/- | del | 1 | |||
rs1555895704 | 1.000 | 0.200 | X | 10495619 | stop gained | G/A | snv | 1 | |||
rs1555895725 | 1.000 | 0.200 | X | 10495692 | splice acceptor variant | C/G | snv | 1 | |||
rs1556001856 | 1.000 | 0.200 | X | 10449491 | stop gained | G/T | snv | 1 | |||
rs1556001968 | 1.000 | 0.200 | X | 10449647 | stop gained | C/T | snv | 1 | |||
rs1556003095 | 1.000 | 0.200 | X | 10454913 | stop gained | -/CAAT | delins | 1 | |||
rs1556003200 | 1.000 | 0.200 | X | 10455071 | frameshift variant | G/- | delins | 1 | |||
rs1556004366 | 1.000 | 0.200 | X | 10459700 | missense variant | C/G | snv | 1 | |||
rs1556004400 | 1.000 | 0.200 | X | 10459732 | missense variant | T/C | snv | 1 | |||
rs1569265497 | 1.000 | 0.200 | X | 10449455 | frameshift variant | G/- | delins | 1 | |||
rs1569268013 | 1.000 | 0.200 | X | 10454966 | frameshift variant | -/C | delins | 1 | |||
rs1569268029 | 1.000 | 0.200 | X | 10454978 | frameshift variant | CT/- | delins | 1 | |||
rs1569270035 | 1.000 | 0.200 | X | 10459777 | inframe deletion | ATC/- | delins | 1 | |||
rs28934611 | 1.000 | 0.200 | X | 10449495 | missense variant | A/G | snv | 1 | |||
rs387906719 | 1.000 | 0.200 | X | 10523136 | stop gained | C/A | snv | 1 | |||
rs398123341 | 1.000 | 0.200 | X | 10449709 | missense variant | T/C;G | snv | 5.6E-06; 1.7E-05 | 1 | ||
rs398123342 | 1.000 | 0.200 | X | 10449573 | frameshift variant | -/G | delins | 1 | |||
rs745554420 | 1.000 | 0.200 | X | 10455042 | stop gained | G/A | snv | 5.5E-06 | 1 |