Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 48 | ||
rs6214 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 26 | ||
rs786201059 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 20 | |||
rs917997 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 20 | |||
rs9257809 | 0.790 | 0.320 | 6 | 29388554 | intron variant | A/G | snv | 5.8E-02 | 10 | ||
rs6898743 | 0.776 | 0.160 | 5 | 42602390 | intron variant | C/G | snv | 0.78 | 9 | ||
rs12268840 | 0.827 | 0.200 | 10 | 129527035 | intron variant | C/T | snv | 0.22 | 6 | ||
rs3784262 | 0.882 | 0.160 | 15 | 57960908 | intron variant | T/A;C | snv | 6 | |||
rs9936833 | 0.882 | 0.160 | 16 | 86369512 | intergenic variant | C/T | snv | 0.64 | 6 | ||
rs121908388 | 0.925 | 0.120 | 16 | 50792627 | stop gained | C/T | snv | 4 | |||
rs5030625 | 0.882 | 0.160 | 16 | 68736944 | upstream gene variant | A/- | del | 0.80 | 3 | ||
rs121908389 | 0.925 | 0.120 | 16 | 50791689 | missense variant | A/G | snv | 2 | |||
rs2701108 | 0.925 | 0.160 | 12 | 114236456 | downstream gene variant | T/C | snv | 0.35 | 2 | ||
rs3072 | 0.925 | 0.160 | 2 | 20678646 | 3 prime UTR variant | T/C | snv | 0.30 | 2 | ||
rs12269324 | 1.000 | 0.120 | 10 | 129468206 | intron variant | T/A | snv | 0.22 | 1 | ||
rs1462159134 | 1.000 | 0.120 | 17 | 7673764 | frameshift variant | CC/T | delins | 1 | |||
rs377767360 | 0.882 | 0.240 | 18 | 51076662 | stop gained | C/T | snv | 4.0E-06 | 4 | ||
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs121908390 | 0.807 | 0.200 | 16 | 50796443 | stop gained | C/G;T | snv | 4.0E-06 | 8 | ||
rs139429793 | 0.925 | 0.120 | 7 | 55155928 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 4 | |
rs536105592 | 0.925 | 0.120 | 8 | 81529460 | missense variant | G/A | snv | 1.2E-04 | 4.9E-05 | 2 | |
rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 32 |