Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs1553212868 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 17 | |||
rs74315289 | 0.827 | 0.280 | 1 | 54999325 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 | 5 | |
rs151344629 | 0.851 | 0.200 | 1 | 247424492 | missense variant | C/T | snv | 4 | |||
rs549556142 | 0.925 | 0.120 | 1 | 100484347 | stop gained | C/A;T | snv | 1.6E-04; 4.1E-06 | 2 | ||
rs876661408 | 0.925 | 0.120 | 1 | 100484440 | stop gained | C/T | snv | 4.3E-06 | 2 | ||
rs745927136 | 1.000 | 0.120 | 1 | 27102734 | missense variant | G/A | snv | 4.0E-05 | 1 | ||
rs763320093 | 1.000 | 0.120 | 1 | 165203923 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs1135401743 | 0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 | 11 | ||
rs1559320299 | 0.925 | 0.160 | 2 | 222297043 | missense variant | T/A | snv | 4 | |||
rs794726869 | 0.925 | 0.120 | 2 | 197705955 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs80356529 | 0.827 | 0.240 | 3 | 193643996 | missense variant | G/A;C | snv | 9 | |||
rs11928865 | 1.000 | 0.120 | 3 | 7114015 | intron variant | T/A;G | snv | 2 | |||
rs11920109 | 1.000 | 0.120 | 3 | 7170999 | intron variant | T/C | snv | 0.35 | 1 | ||
rs61736451 | 1.000 | 0.120 | 3 | 10359892 | missense variant | C/A;T | snv | 4.0E-06; 1.1E-02 | 1 | ||
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 | ||
rs771409809 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 19 | |
rs3774937 | 0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 | 9 | ||
rs387906930 | 0.790 | 0.360 | 4 | 6301846 | missense variant | C/G;T | snv | 8 | |||
rs11096955 | 0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 | 5 | ||
rs1323852277 | 0.925 | 0.120 | 4 | 6301903 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs142668478 | 0.925 | 0.120 | 4 | 6301849 | missense variant | G/A;C;T | snv | 1.8E-04; 4.0E-06 | 2 | ||
rs28937893 | 0.925 | 0.120 | 4 | 6301941 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 2 | ||
rs387906931 | 0.925 | 0.360 | 4 | 6302133 | missense variant | G/A | snv | 2 |