Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28937581 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 9 | ||
rs757917335 | 1.000 | 0.120 | 2 | 71611481 | missense variant | T/C | snv | 2.0E-05 | 6 | ||
rs1131692158 | 1.000 | 0.120 | 2 | 71669207 | missense variant | G/A;C | snv | 5 | |||
rs1553521119 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 5 | |||
rs202218890 | 0.827 | 0.160 | 2 | 71569884 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 5 | |
rs770905160 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 5 | ||
rs121908955 | 0.851 | 0.160 | 2 | 71682597 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 4 | |
rs121908956 | 0.851 | 0.160 | 2 | 71564074 | missense variant | C/A;G;T | snv | 4 | |||
rs121908958 | 0.851 | 0.160 | 2 | 71570704 | missense variant | G/A | snv | 2.0E-05 | 6.3E-05 | 4 | |
rs121908959 | 0.851 | 0.120 | 2 | 71674242 | stop gained | C/T | snv | 1.2E-05 | 2.1E-05 | 4 | |
rs140108514 | 0.851 | 0.120 | 2 | 71568083 | splice donor variant | G/A | snv | 1.2E-04 | 4.5E-04 | 4 | |
rs200916654 | 0.925 | 0.120 | 2 | 71551635 | missense variant | T/C | snv | 2.9E-05 | 4 | ||
rs398123763 | 0.851 | 0.120 | 2 | 71520905 | splice donor variant | G/A | snv | 2.1E-05 | 4 | ||
rs398123781 | 0.851 | 0.120 | 2 | 71590212 | stop gained | TG/AA | mnv | 4 | |||
rs746873768 | 0.851 | 0.120 | 2 | 71553092 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs758180890 | 0.851 | 0.120 | 2 | 71526295 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.4E-05 | 4 | ||
rs121908957 | 0.882 | 0.160 | 2 | 71481934 | missense variant | TG/AT | mnv | 3 | |||
rs121908963 | 0.882 | 0.160 | 2 | 71517028 | missense variant | G/A;C;T | snv | 4.0E-06 | 3 | ||
rs377735262 | 0.882 | 0.160 | 2 | 71551631 | missense variant | C/T | snv | 2.9E-05 | 1.4E-05 | 3 | |
rs727503909 | 0.882 | 0.120 | 2 | 71568305 | frameshift variant | G/- | delins | 3 | |||
rs750028300 | 0.882 | 0.120 | 2 | 71570277 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs863225021 | 0.882 | 0.160 | 2 | 71665181 | missense variant | C/G;T | snv | 4.0E-06 | 3 | ||
rs1057516051 | 1.000 | 0.120 | 2 | 71660587 | frameshift variant | G/- | delins | 2 | |||
rs1064794020 | 0.925 | 0.120 | 2 | 71679173 | stop gained | C/T | snv | 2 | |||
rs121908954 | 0.925 | 0.160 | 2 | 71602794 | missense variant | A/G | snv | 4.6E-03 | 4.7E-03 | 2 |