Source: BEFREE
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 36 | |
rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 16 | |
rs459552 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 13 | ||
rs11954856 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 12 | ||
rs454886 | 0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 | 10 | ||
rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 6 | ||
rs770649674 | 0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs587782868 | 0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 | 5 | ||
rs1268298845 | 0.882 | 0.120 | 5 | 112780878 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs150973053 | 0.851 | 0.200 | 5 | 112767356 | missense variant | A/G | snv | 3.5E-04 | 2.7E-04 | 4 | |
rs137854580 | 0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 | 3 | ||
rs62619935 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 3 | ||
rs786201856 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 3 | |||
rs121913224 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 2 | |||
rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 2 | |||
rs142637152 | 0.925 | 0.120 | 5 | 112767314 | missense variant | G/T | snv | 2 | |||
rs2229995 | 0.925 | 0.080 | 5 | 112843098 | missense variant | G/A | snv | 2.0E-02 | 1.7E-02 | 2 | |
rs530670052 | 0.925 | 0.080 | 5 | 112801313 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 2 | |
rs79896135 | 0.925 | 0.080 | 5 | 112707585 | 5 prime UTR variant | C/A;G;T | snv | 2 | |||
rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 1 | ||
rs1488176769 | 1.000 | 0.080 | 5 | 112707865 | missense variant | T/C | snv | 1.4E-05 | 1 | ||
rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 1 | |||
rs41116 | 1.000 | 0.080 | 5 | 112845224 | 3 prime UTR variant | T/C | snv | 0.39 | 1 |