Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1060502645 | 1.000 | 0.120 | X | 32365187 | stop gained | C/A | snv | 1 | |||
rs1060502646 | 1.000 | 0.120 | X | 32342131 | frameshift variant | AAATTTGC/- | delins | 1 | |||
rs1060502647 | 1.000 | 0.120 | X | 32364635 | frameshift variant | GT/- | delins | 1 | |||
rs1060502648 | 1.000 | 0.120 | X | 31209627 | frameshift variant | A/- | del | 1 | |||
rs1060502652 | 1.000 | 0.120 | X | 33020191 | frameshift variant | CT/- | delins | 1 | |||
rs1060502653 | 1.000 | 0.120 | X | 31204113 | splice acceptor variant | TCTACAAAGG/- | delins | 1 | |||
rs1060502656 | 1.000 | 0.120 | X | 32287702 | splice acceptor variant | C/T | snv | 1 | |||
rs1064325 | 1.000 | 0.120 | X | 32345999 | stop gained | G/A;T | snv | 1 | |||
rs1064792967 | 1.000 | 0.120 | X | 31820041 | frameshift variant | GGT/AAAC | delins | 1 | |||
rs1239018406 | 1.000 | 0.120 | X | 32699111 | splice donor variant | C/A;T | snv | 1 | |||
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 | ||
rs128627256 | 0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv | 3 | |||
rs1340365803 | 1.000 | 0.120 | X | 32809553 | stop gained | C/A;T | snv | 9.5E-06 | 1 | ||
rs1385794215 | 1.000 | 0.120 | X | 31147289 | stop gained | G/A;T | snv | 5.5E-06 | 1 | ||
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 | ||
rs1556028034 | 1.000 | 0.120 | X | 31172375 | frameshift variant | T/- | delins | 1 | |||
rs1556035795 | 1.000 | 0.120 | X | 31177956 | frameshift variant | A/- | del | 1 | |||
rs1556035817 | 1.000 | 0.120 | X | 31177964 | splice acceptor variant | ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- | delins | 1 |