Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587780174 | 0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 | 7 | |
rs1800234 | 0.807 | 0.240 | 22 | 46219983 | missense variant | T/A;C | snv | 4.0E-06; 1.1E-02 | 6 | ||
rs730881701 | 0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 | 6 | |
rs733655 | 0.827 | 0.240 | 22 | 37099011 | intron variant | T/C | snv | 0.28 | 6 | ||
rs536907995 | 0.882 | 0.120 | 22 | 28734664 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 | 5 | |
rs587780170 | 0.851 | 0.120 | 22 | 28695786 | missense variant | C/A;G;T | snv | 2.8E-05; 8.0E-06 | 5 | ||
rs757163626 | 0.827 | 0.120 | 22 | 19962726 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs8190315 | 0.851 | 0.240 | 22 | 17743998 | missense variant | T/C | snv | 2.4E-02 | 3.6E-02 | 5 | |
rs864622149 | 0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv | 5 | |||
rs142030651 | 0.851 | 0.080 | 22 | 41117723 | missense variant | G/A;C | snv | 6.1E-03 | 4 | ||
rs1457049406 | 0.851 | 0.200 | 22 | 19962555 | missense variant | C/T | snv | 4 | |||
rs200050883 | 0.851 | 0.120 | 22 | 28695190 | missense variant | C/A;G;T | snv | 3.9E-04 | 3.4E-04 | 4 | |
rs2020917 | 0.851 | 0.160 | 22 | 19941361 | intron variant | C/T | snv | 0.22 | 4 | ||
rs28909982 | 0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 | 4 | |
rs417309 | 0.925 | 0.080 | 22 | 20111021 | 3 prime UTR variant | G/A | snv | 6.1E-02 | 4 | ||
rs587782471 | 0.851 | 0.240 | 22 | 28711994 | missense variant | A/G;T | snv | 3.5E-04; 8.0E-06 | 4 | ||
rs9620817 | 0.851 | 0.120 | 22 | 28712568 | intron variant | A/T | snv | 8.4E-02 | 4 | ||
rs137853010 | 0.882 | 0.120 | 22 | 28725028 | missense variant | G/A;C | snv | 1.1E-04 | 3 | ||
rs17001868 | 0.925 | 0.080 | 22 | 40382227 | intron variant | A/C | snv | 0.12 | 3 | ||
rs17883862 | 0.882 | 0.080 | 22 | 28734468 | missense variant | G/A;C;T | snv | 9.1E-04; 1.2E-05 | 3 | ||
rs2543519 | 0.925 | 0.080 | 22 | 37084229 | missense variant | A/C;G | snv | 0.22 | 3 | ||
rs531398630 | 0.882 | 0.160 | 22 | 28695858 | missense variant | G/A | snv | 4.8E-04 | 1.1E-04 | 3 | |
rs5748469 | 0.882 | 0.120 | 22 | 19919576 | missense variant | C/A | snv | 0.45 | 0.36 | 3 | |
rs587780192 | 0.925 | 0.080 | 22 | 28699929 | missense variant | C/G;T | snv | 4.4E-05; 4.0E-06 | 3 | ||
rs77130927 | 0.882 | 0.120 | 22 | 28725031 | missense variant | G/A | snv | 1.0E-03 | 5.5E-04 | 3 |