Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs1232880706 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 36 | |||
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 33 | ||
rs137854466 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 23 | ||
rs1554122802 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 22 | |||
rs1555735545 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 22 | |||
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs771409809 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 19 | |
rs112550005 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 18 | |||
rs111854391 | 0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 | 18 | ||
rs1566911709 | 0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins | 15 | |||
rs113422242 | 0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 | 14 | ||
rs137854461 | 0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | snv | 12 | |||
rs397515804 | 0.776 | 0.200 | 15 | 48472628 | missense variant | C/A;T | snv | 11 | |||
rs113812345 | 0.790 | 0.160 | 15 | 48513591 | stop gained | G/A | snv | 10 | |||
rs397515789 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 10 | |||
rs1085308004 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv | 9 | |||
rs193922219 | 0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv | 9 | |||
rs1566913974 | 0.807 | 0.200 | 15 | 48505029 | missense variant | A/C | snv | 8 | |||
rs1555398673 | 0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv | 7 | |||
rs137854467 | 0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv | 6 | |||
rs137854475 | 0.882 | 0.200 | 15 | 48487155 | missense variant | C/T | snv | 1.3E-03 | 1.6E-03 | 1 |