Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1360780 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 31 | |||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs5569 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 19 | ||
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 | |||
rs27072 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 11 | |||
rs75634836 | 0.807 | 0.160 | 13 | 46835532 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
rs686 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 9 | |||
rs886041097 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 9 | |||
rs1800955 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 8 | |||
rs63750570 | 0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv | 8 | |||
rs3745406 | 0.851 | 0.080 | 19 | 53891711 | missense variant | T/A;C | snv | 4.0E-06; 0.41 | 6 | ||
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 | ||||
rs265981 | 0.925 | 0.080 | 5 | 175443899 | 5 prime UTR variant | A/G;T | snv | 3 | |||
rs594242 | 1.000 | 0.040 | 13 | 46883917 | intron variant | C/A;G | snv | 3 | |||
rs1004212 | 14 | 78714883 | synonymous variant | C/G;T | snv | 8.0E-06; 0.15 | 2 | ||||
rs806379 | 1.000 | 0.040 | 6 | 88151548 | intron variant | A/C;T | snv | 2 | |||
rs144900171 | 0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 | 5 | ||
rs79874540 | 0.925 | 0.080 | 2 | 231123707 | stop gained | G/A | snv | 1.5E-03 | 1.2E-03 | 4 | |
rs6736017 | 2 | 231108702 | missense variant | T/C | snv | 6.3E-03 | 2.5E-02 | 4 |