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 | |||
rs397516248 | 0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv | 5 | |||
rs606231324 | 0.851 | 0.080 | 14 | 23428505 | missense variant | C/G;T | snv | 5 | |||
rs727503204 | 0.882 | 0.080 | 11 | 47343020 | splice donor variant | C/G;T | snv | 5 | |||
rs727504443 | 0.851 | 0.120 | 6 | 7565521 | splice donor variant | G/A | snv | 7.0E-06 | 5 | ||
rs1114167453 | 1.000 | 19 | 45385569 | stop gained | G/C | snv | 4 | ||||
rs1553265736 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 4 | |||
rs1553707780 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 4 | |||
rs1554093433 | 0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv | 4 | |||
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 | |||
rs1557315928 | X | 32380517 | stop gained | C/T | snv | 4 | |||||
rs199476317 | 0.827 | 0.080 | 15 | 63062263 | missense variant | G/A | snv | 4 | |||
rs267607004 | 0.925 | 0.040 | 10 | 110812304 | missense variant | G/A | snv | 1.4E-05 | 4 | ||
rs267607490 | 0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv | 4 | |||
rs267607581 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 4 | |||
rs28933091 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 4 | |||
rs397516089 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 4 | |||
rs397516165 | 0.925 | 0.080 | 14 | 23424118 | missense variant | C/G;T | snv | 4 | |||
rs397516373 | 0.925 | 0.080 | 15 | 63059663 | missense variant | G/A | snv | 4 | |||
rs397516471 | 0.882 | 0.080 | 1 | 201363348 | missense variant | C/T | snv | 4 | |||
rs397516706 | 0.925 | 0.080 | 18 | 31546441 | frameshift variant | AGAG/-;AG | delins | 4 | |||
rs397516784 | 0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 | 4 | ||
rs45578238 | 0.882 | 0.080 | 1 | 201361971 | inframe deletion | CTT/- | delins | 4 |