Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1556425596 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 37 | |||
rs1569518070 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 33 | |||
rs747900252 | 0.925 | 0.160 | 21 | 46125776 | intron variant | G/A | snv | 1.1E-04 | 7.7E-05 | 6 | |
rs398123640 | 1.000 | 0.120 | 21 | 45989093 | missense variant | G/A;C | snv | 4 | |||
rs398124119 | 0.882 | 0.160 | 2 | 237395121 | stop gained | G/A | snv | 4.4E-05 | 2.8E-05 | 3 | |
rs398124126 | 0.882 | 0.160 | 2 | 237361120 | splice donor variant | C/T | snv | 3 | |||
rs535661345 | 0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 | 3 | |
rs764193290 | 0.882 | 0.160 | 2 | 237342163 | splice acceptor variant | T/- | del | 4.0E-06 | 3 | ||
rs797044988 | 0.882 | 0.160 | 2 | 237359390 | splice acceptor variant | T/G | snv | 3 | |||
rs121912938 | 0.882 | 0.160 | 21 | 45989129 | missense variant | G/A | snv | 2 | |||
rs121912939 | 0.882 | 0.160 | 21 | 45989617 | missense variant | G/A;C;T | snv | 2 | |||
rs398123631 | 0.925 | 0.120 | 21 | 45990827 | splice donor variant | G/A | snv | 2 | |||
rs267606747 | 0.925 | 0.160 | 21 | 46126144 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs267606748 | 0.882 | 0.160 | 21 | 46115917 | missense variant | G/A | snv | 2 | |||
rs387906609 | 0.925 | 0.120 | 21 | 46117916 | stop gained | C/T | snv | 4.0E-06 | 2 | ||
rs751987553 | 0.925 | 0.120 | 21 | 46125301 | stop gained | C/A;T | snv | 2.8E-05 | 2 | ||
rs767517186 | 0.925 | 0.120 | 2 | 237334890 | splice acceptor variant | C/G | snv | 1.6E-05 | 4.2E-05 | 2 | |
rs878854379 | 0.925 | 0.120 | 2 | 237344754 | stop gained | G/A;C | snv | 4.1E-06 | 2 | ||
rs886042883 | 1.000 | 0.120 | 2 | 237359205 | splice donor variant | C/A;T | snv | 2 | |||
rs886043919 | 0.925 | 0.160 | 2 | 237359361 | splice donor variant | C/A;T | snv | 2 | |||
rs112814811 | 1.000 | 0.120 | 21 | 45998397 | splice acceptor variant | G/A;C | snv | 1 | |||
rs121912934 | 1.000 | 0.120 | 21 | 45998399 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
rs121912935 | 1.000 | 0.120 | 21 | 45990792 | missense variant | G/A;T | snv | 1 | |||
rs121912936 | 1.000 | 0.120 | 21 | 45984403 | missense variant | A/G | snv | 1 | |||
rs1556423728 | 1.000 | 0.120 | 21 | 45982682 | frameshift variant | C/- | delins | 1 |