Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1424266770 | 0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 | 10 | ||
rs1049216 | 0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 | 9 | ||
rs12108497 | 0.851 | 0.080 | 4 | 184650403 | intron variant | C/G;T | snv | 6 | |||
rs4647601 | 0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 | 5 | ||
rs1049253 | 0.851 | 0.160 | 4 | 184627797 | 3 prime UTR variant | A/G | snv | 0.13 | 4 | ||
rs2705897 | 0.925 | 0.080 | 4 | 184631944 | splice region variant | T/G | snv | 0.64 | 0.73 | 4 | |
rs113420705 | 0.925 | 0.160 | 4 | 184649399 | 5 prime UTR variant | T/C | snv | 0.31 | 4 | ||
rs4647602 | 0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 | 4 | ||
rs4647603 | 0.925 | 0.080 | 4 | 184648576 | 5 prime UTR variant | C/T | snv | 0.11 | 4 | ||
rs4647610 | 0.882 | 0.160 | 4 | 184646777 | intron variant | C/T | snv | 0.16 | 3 | ||
rs6948 | 1.000 | 0.120 | 4 | 184627976 | 3 prime UTR variant | G/T | snv | 0.48 | 3 | ||
rs2705901 | 4 | 184638333 | intron variant | G/C | snv | 0.88 | 2 | ||||
rs4647641 | 4 | 184640236 | intron variant | T/G | snv | 3.6E-02 | 2 | ||||
rs4647693 | 0.925 | 0.080 | 4 | 184629610 | intron variant | T/C | snv | 0.31 | 2 | ||
rs750802459 | 1.000 | 0.120 | 4 | 184635342 | frameshift variant | TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- | delins | 5.6E-05 | 2 | ||
rs964793521 | 0.925 | 0.080 | 4 | 184638460 | 5 prime UTR variant | C/T | snv | 1.4E-05 | 2 | ||
rs4647600 | 4 | 184649745 | 5 prime UTR variant | T/C;G | snv | 2 | |||||
rs111512673 | 1.000 | 0.120 | 4 | 184632303 | missense variant | A/G | snv | 1 | |||
rs1485215606 | 1.000 | 0.040 | 4 | 184632296 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 | 1 | |
rs2696056 | 1.000 | 0.080 | 4 | 184634082 | intron variant | C/A;G;T | snv | 1 | |||
rs2720378 | 1.000 | 0.120 | 4 | 184646959 | intron variant | C/A;G;T | snv | 1 | |||
rs4647608 | 4 | 184647083 | intron variant | C/T | snv | 1.7E-04 | 1 | ||||
rs4647614 | 4 | 184646349 | intron variant | T/C | snv | 5.9E-02 | 1 | ||||
rs4647665 | 4 | 184634712 | intron variant | A/G | snv | 5.1E-02 | 1 | ||||
rs4647667 | 4 | 184634471 | intron variant | G/A | snv | 1.7E-02 | 1 |