Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397516955 | 0.790 | 0.120 | 6 | 7562753 | stop gained | G/A | snv | 9 | |||
rs794728137 | 0.807 | 0.120 | 6 | 7565507 | frameshift variant | -/G | delins | 6 | |||
rs727504443 | 0.851 | 0.120 | 6 | 7565521 | splice donor variant | G/A | snv | 7.0E-06 | 5 | ||
rs1554108012 | 0.882 | 0.120 | 6 | 7579323 | stop gained | C/T | snv | 4 | |||
rs1554108152 | 0.882 | 0.120 | 6 | 7579922 | frameshift variant | -/AAATCGA | delins | 4 | |||
rs1554108431 | 0.882 | 0.120 | 6 | 7581189 | stop gained | C/T | snv | 4 | |||
rs397516943 | 0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 | 4 | ||
rs1057517903 | 0.882 | 0.120 | 6 | 7575294 | splice acceptor variant | G/C | snv | 3 | |||
rs1236464864 | 0.882 | 0.120 | 6 | 7580585 | stop gained | T/C;G | snv | 1.4E-05 | 3 | ||
rs140474226 | 0.882 | 0.120 | 6 | 7580370 | stop gained | C/T | snv | 3 | |||
rs1554108287 | 0.925 | 0.080 | 6 | 7580495 | frameshift variant | CACTG/- | del | 3 | |||
rs1554108410 | 0.882 | 0.120 | 6 | 7581072 | frameshift variant | AGGAG/TTCT | delins | 3 | |||
rs1554108477 | 0.882 | 0.120 | 6 | 7581459 | stop gained | C/T | snv | 3 | |||
rs1561698362 | 0.925 | 0.120 | 6 | 7580225 | frameshift variant | ATGAA/- | delins | 3 | |||
rs28763965 | 0.925 | 0.120 | 6 | 7580562 | stop gained | C/A;G;T | snv | 8.0E-06; 1.7E-03; 4.0E-06 | 3 | ||
rs397516940 | 0.882 | 0.120 | 6 | 7580721 | stop gained | C/T | snv | 2.0E-05 | 7.0E-06 | 3 | |
rs730880082 | 0.882 | 0.120 | 6 | 7576986 | stop gained | C/G;T | snv | 3 | |||
rs746877365 | 0.882 | 0.160 | 6 | 7579527 | stop gained | C/G;T | snv | 4.0E-06 | 3 | ||
rs876657638 | 0.882 | 0.120 | 6 | 7571554 | stop gained | C/T | snv | 3 | |||
rs113726158 | 0.925 | 0.120 | 6 | 7565357 | splice acceptor variant | A/G;T | snv | 2 | |||
rs1194358112 | 0.925 | 0.120 | 6 | 7584502 | stop gained | G/C;T | snv | 4.0E-06 | 2 | ||
rs1267435790 | 0.925 | 0.120 | 6 | 7570444 | stop gained | C/G;T | snv | 1.2E-05 | 2 | ||
rs1394836623 | 0.925 | 0.120 | 6 | 7581511 | frameshift variant | AGAG/-;AG | delins | 1.4E-05 | 2 | ||
rs141026028 | 0.925 | 0.120 | 6 | 7583758 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs1487814687 | 0.925 | 0.120 | 6 | 7582927 | frameshift variant | GAGA/-;GA | delins | 2 |