Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10941679 | 0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 | 2 | ||
rs7716600 | 0.925 | 0.080 | 5 | 44874903 | regulatory region variant | A/C;T | snv | 2 | |||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs113994087 | 0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv | 4 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 1 | ||
rs1553622530 | 2 | 214781220 | stop gained | C/T | snv | 1 | |||||
rs121913348 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 16 | |||
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 10 | ||
rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 10 | ||
rs80356962 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 8 | |
rs80356978 | 0.827 | 0.200 | 17 | 43092809 | stop gained | C/A;T | snv | 7 | |||
rs80357123 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 7 | ||
rs80357382 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 7 | ||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 7 | ||
rs80358044 | 0.827 | 0.200 | 17 | 43074330 | splice donor variant | C/A;G;T | snv | 7 | |||
rs41293465 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 6 | ||
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 6 | ||
rs1800747 | 0.882 | 0.200 | 17 | 43063952 | splice acceptor variant | C/A;G;T | snv | 5 | |||
rs28897696 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 5 | ||
rs80356923 | 0.882 | 0.200 | 17 | 43091891 | stop gained | C/A;T | snv | 9.9E-05 | 5 | ||
rs80357481 | 0.882 | 0.200 | 17 | 43094317 | stop gained | G/C;T | snv | 5 | |||
rs80357888 | 0.882 | 0.200 | 17 | 43094023 | frameshift variant | ATTTA/- | delins | 5 | |||
rs397509173 | 0.925 | 0.200 | 17 | 43104120 | splice donor variant | A/C;G;T | snv | 4 | |||
rs41293463 | 0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 | 4 | ||
rs587781632 | 0.925 | 0.200 | 17 | 43106476 | splice donor variant | A/C;T | snv | 4 |