Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs74315289 | 0.827 | 0.280 | 1 | 54999325 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 | 5 | |
rs1569492161 | 0.882 | 0.280 | X | 108586729 | missense variant | G/C | snv | 4 | |||
rs7456421 | 0.882 | 0.120 | 7 | 139715976 | synonymous variant | G/C | snv | 0.27 | 0.37 | 4 | |
rs867394500 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 4 | |||
rs281874657 | 0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv | 3 | |||
rs7222094 | 0.882 | 0.120 | 17 | 45290287 | intron variant | T/C | snv | 0.54 | 3 | ||
rs1382048442 | 0.925 | 0.160 | 10 | 99797141 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs138207257 | 0.925 | 0.160 | 10 | 97611535 | missense variant | G/A;T | snv | 2.0E-05; 1.1E-04 | 2 | ||
rs202047589 | 0.925 | 0.160 | 10 | 97599780 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 | 2 | |
rs367825197 | 0.925 | 0.080 | 7 | 131509412 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
rs538166970 | 0.925 | 0.080 | 17 | 63496920 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 2 | ||
rs12704795 | 1.000 | 0.080 | 7 | 95424695 | intron variant | T/G | snv | 0.34 | 1 | ||
rs886039813 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 8 | |||
rs118203478 | 0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins | 5 | |||
rs1553948516 | 0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins | 3 | |||
rs771454167 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 6 | |
rs1567202189 | 1.000 | 0.080 | 16 | 2111276 | inframe insertion | -/GTG | ins | 2 |