Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11598702 | 10 | 103138228 | intron variant | T/C;G | snv | 1 | |||||
rs104894419 | 0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 | 8 | |
rs759838407 | 0.925 | 0.160 | 13 | 108209756 | frameshift variant | AG/-;AGAG | delins | 3 | |||
rs17824620 | 12 | 112663189 | intron variant | C/A | snv | 0.26 | 2 | ||||
rs10759637 | 1.000 | 0.040 | 9 | 113262744 | 3 prime UTR variant | A/C | snv | 0.47 | 2 | ||
rs7729269 | 0.925 | 0.040 | 5 | 113384697 | intron variant | T/C | snv | 0.17 | 3 | ||
rs1537514 | 0.882 | 0.120 | 1 | 11788011 | missense variant | G/C | snv | 0.10 | 0.10 | 4 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs724159947 | 0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv | 6 | |||
rs786205155 | 0.882 | 0.120 | 12 | 11884481 | missense variant | T/C | snv | 4 | |||
rs724159946 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 3 | |||
rs786205154 | 1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins | 3 | |||
rs724159945 | 1.000 | 12 | 11885968 | missense variant | C/A;T | snv | 3 | ||||
rs10510050 | 10 | 118867050 | intron variant | A/G | snv | 0.52 | 1 | ||||
rs1523130 | 3 | 119780660 | 5 prime UTR variant | T/C | snv | 0.47 | 1 | ||||
rs3814055 | 0.925 | 0.040 | 3 | 119781188 | 5 prime UTR variant | C/T | snv | 0.35 | 4 | ||
rs1523127 | 0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 | 3 | ||
rs1556620697 | 0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv | 10 | |||
rs2071346 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 3 | ||
rs1064797085 | 1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins | 2 | ||||
rs5030764 | 0.882 | 0.080 | 3 | 129061921 | missense variant | A/G | snv | 4.8E-04 | 7.4E-04 | 5 | |
rs1297235855 | 3 | 129062206 | missense variant | C/T | snv | 1 | |||||
rs527297896 | 1.000 | 0.040 | 9 | 132988461 | missense variant | G/T | snv | 4.9E-04 | 8.4E-05 | 2 |