Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553518509 | 1.000 | 0.040 | 2 | 148468916 | stop gained | C/T | snv | 2 | |||
rs2230365 | 0.925 | 0.160 | 6 | 31557671 | synonymous variant | C/T | snv | 0.16 | 0.13 | 2 | |
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 2 | |||
rs121912562 | 0.925 | 0.160 | 4 | 148435252 | stop gained | G/A;C | snv | 4.0E-06 | 2 | ||
rs2898883 | 1.000 | 0.040 | 17 | 49405591 | intron variant | G/A | snv | 0.23 | 2 | ||
rs7341475 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 2 | ||
rs121918799 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 2 | |
rs1555910143 | 0.925 | 0.120 | 22 | 50721257 | frameshift variant | CT/- | del | 2 | |||
rs870142 | 0.851 | 0.120 | 4 | 4646320 | intron variant | C/G;T | snv | 2 | |||
rs1567533189 | 0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del | 2 | |||
rs121908445 | 0.925 | 0.040 | 7 | 148147542 | missense variant | T/C | snv | 3.3E-04 | 1.7E-04 | 1 | |
rs2710102 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 1 | |||
rs7794745 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 1 | ||
rs1396313317 | 1.000 | 0.040 | 7 | 147562137 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs769236847 | 0.807 | 0.200 | 7 | 97869011 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 1 | |
rs1564950387 | 1.000 | 0.040 | 11 | 687909 | splice donor variant | A/C | snv | 1 | |||
rs2289195 | 1.000 | 0.040 | 2 | 25240614 | intron variant | G/A | snv | 0.41 | 0.41 | 1 | |
rs10498676 | 0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 | 1 | ||
rs17606561 | 1.000 | 0.040 | 6 | 10982126 | 3 prime UTR variant | G/A | snv | 0.17 | 1 | ||
rs3756963 | 0.882 | 0.200 | 6 | 11021921 | intron variant | T/C | snv | 0.24 | 1 | ||
rs9468304 | 1.000 | 0.040 | 6 | 11041932 | intron variant | G/A | snv | 0.19 | 1 | ||
rs4534 | 0.925 | 0.240 | 8 | 142879686 | missense variant | C/T | snv | 8.4E-02 | 4.1E-02 | 1 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 1 | |
rs1569305431 | 1.000 | 0.040 | X | 53254702 | frameshift variant | G/- | delins | 1 | |||
rs1564801473 | 1.000 | 0.040 | 10 | 87864406 | 5 prime UTR variant | -/C | delins | 1 |