Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80359818 | 0.776 | 0.360 | 1 | 42930766 | missense variant | G/A | snv | 8 | |||
rs80359825 | 0.790 | 0.360 | 1 | 42929009 | missense variant | G/A | snv | 7 | |||
rs80359826 | 0.807 | 0.120 | 1 | 42929018 | stop gained | G/A;T | snv | 4.0E-06 | 7 | ||
rs13306758 | 0.807 | 0.360 | 1 | 42927148 | missense variant | G/A;T | snv | 2.8E-03 | 6 | ||
rs1553155986 | 0.827 | 0.280 | 1 | 42929008 | missense variant | C/T | snv | 6 | |||
rs796053248 | 0.807 | 0.360 | 1 | 42929885 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
rs796053272 | 0.827 | 0.360 | 1 | 42943323 | splice acceptor variant | T/C | snv | 5 | |||
rs202060209 | 0.925 | 0.040 | 1 | 42931047 | missense variant | G/A;T | snv | 2.4E-05 | 3 | ||
rs794727870 | 0.925 | 0.160 | 1 | 42929244 | missense variant | G/A;T | snv | 3 | |||
rs121909739 | 0.925 | 0.040 | 1 | 42929242 | missense variant | C/T | snv | 2 | |||
rs121909740 | 0.925 | 0.120 | 1 | 42929637 | missense variant | C/A;T | snv | 4.0E-06 | 2 | ||
rs267607061 | 0.925 | 0.040 | 1 | 42930865 | missense variant | G/A;T | snv | 7.0E-06 | 2 | ||
rs796053253 | 0.925 | 0.040 | 1 | 42929211 | missense variant | G/A | snv | 2 | |||
rs1057520545 | 1.000 | 0.040 | 1 | 42930649 | missense variant | C/T | snv | 1 | |||
rs794727642 | 1.000 | 0.040 | 1 | 42930684 | missense variant | C/A;G;T | snv | 1 | |||
rs80359812 | 1.000 | 0.040 | 1 | 42943239 | missense variant | T/A | snv | 1 | |||
rs1557646867 | 0.827 | 0.360 | 1 | 42931159 | frameshift variant | -/T | delins | 5 | |||
rs1553156047 | 1.000 | 0.040 | 1 | 42929605 | inframe deletion | AGACAGCTGCTG/- | del | 1 | |||
rs267607060 | 1.000 | 0.040 | 1 | 42930858 | missense variant | GA/AT | mnv | 1 |