Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201217593 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 8 | |
rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 | |||
rs104894787 | 0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv | 3 | |||
rs128627256 | 0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv | 3 | |||
rs373286166 | 0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 | 3 | |
rs398122853 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 3 | |||
rs398123832 | 0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv | 3 | |||
rs398123909 | 0.882 | 0.160 | X | 32472310 | splice acceptor variant | C/A;T | snv | 3 | |||
rs398123929 | 0.882 | 0.160 | X | 32468509 | stop gained | G/A | snv | 3 | |||
rs398123935 | 0.882 | 0.160 | X | 32463576 | stop gained | G/A | snv | 3 | |||
rs794726993 | 0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv | 3 | |||
rs886042604 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 3 | |||
rs104894790 | 0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv | 2 | |||
rs128626232 | 0.925 | 0.160 | X | 32545310 | stop gained | G/A;C | snv | 1.1E-05 | 2 | ||
rs128626235 | 0.925 | 0.160 | X | 32816565 | stop gained | G/A;T | snv | 5.5E-06 | 2 | ||
rs128626241 | 0.925 | 0.160 | X | 32595870 | stop gained | G/A | snv | 2 | |||
rs128626245 | 0.925 | 0.160 | X | 32468539 | stop gained | G/A | snv | 2 | |||
rs128626248 | 0.925 | 0.160 | X | 32389605 | stop gained | G/A | snv | 2 | |||
rs128626251 | 0.925 | 0.160 | X | 32216981 | stop gained | G/A | snv | 2 | |||
rs128626254 | 0.925 | 0.160 | X | 31323625 | stop gained | G/A;T | snv | 1.1E-05 | 2 | ||
rs146071084 | 0.925 | 0.160 | X | 32454660 | splice donor variant | A/C;T | snv | 2 | |||
rs146880270 | 0.925 | 0.160 | X | 32438312 | stop gained | C/A;T | snv | 5.5E-06 | 2 | ||
rs1556789913 | 0.925 | 0.160 | X | 31657989 | splice donor variant | C/T | snv | 2 | |||
rs1556880354 | 0.925 | 0.120 | X | 31774193 | splice acceptor variant | C/T | snv | 2 | |||
rs1556962271 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 2 |