Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs1131691771 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 18 | |||
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
rs1562150844 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 14 | |||
rs1135402761 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 11 | |||
rs886041097 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 9 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 8 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 6 | |
rs144900171 | 0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 | 5 | ||
rs1565922388 | 0.925 | 12 | 79353599 | missense variant | T/A | snv | 5 | ||||
rs1565922395 | 0.925 | 12 | 79353602 | missense variant | A/G | snv | 5 | ||||
rs1565962725 | 0.925 | 12 | 79448953 | missense variant | C/A | snv | 5 | ||||
rs6736017 | 2 | 231108702 | missense variant | T/C | snv | 6.3E-03 | 2.5E-02 | 3 | |||
rs11819869 | 1.000 | 0.040 | 11 | 46539130 | intron variant | C/T | snv | 0.27 | 1 | ||
rs2110267 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 1 | ||
rs1360780 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 1 | |||
rs63750570 | 0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv | 1 | |||
rs2236225 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 1 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 1 | |
rs324981 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 1 | |
rs11624704 | 1.000 | 0.080 | 14 | 78319734 | intron variant | A/C | snv | 0.13 | 1 |