Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1448674651 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 23 | ||
rs34743033 | 0.776 | 0.200 | 18 | 657657 | 5 prime UTR variant | GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG | delins | 8 | |||
rs11873890 | 18 | 662135 | intron variant | A/G | snv | 8.2E-03 | 3.2E-02 | 4 | |||
rs2847153 | 0.925 | 0.080 | 18 | 661647 | intron variant | G/A | snv | 0.22 | 3 | ||
rs151264360 | 0.925 | 0.040 | 18 | 673444 | 3 prime UTR variant | AAGTTA/-;AAGTTAAAGTTA | delins | 3 | |||
rs1001761 | 1.000 | 0.080 | 18 | 662103 | intron variant | G/A | snv | 0.50 | 0.55 | 2 | |
rs66567989 | 18 | 660442 | intron variant | A/- | del | 0.11 | 2 | ||||
rs1059394 | 0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 | 2 | ||
rs2790 | 0.925 | 0.160 | 18 | 673086 | 3 prime UTR variant | A/G;T | snv | 0.22 | 2 | ||
rs750248338 | 0.925 | 0.080 | 18 | 670857 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs502396 | 1.000 | 0.080 | 18 | 659236 | intron variant | C/T | snv | 0.46 | 2 | ||
rs2847149 | 1.000 | 0.080 | 18 | 666371 | intron variant | G/A | snv | 0.55 | 1 | ||
rs699517 | 18 | 673016 | 3 prime UTR variant | C/T | snv | 0.38 | 0.40 | 1 | |||
rs2606241 | 1.000 | 0.080 | 18 | 657443 | intron variant | A/C | snv | 0.66 | 1 | ||
rs9967368 | 1.000 | 0.080 | 18 | 656020 | intron variant | C/G;T | snv | 1 | |||
rs2853533 | 1.000 | 0.080 | 18 | 658064 | non coding transcript exon variant | G/C | snv | 0.22 | 0.22 | 1 | |
rs2853542 | 1.000 | 0.120 | 18 | 657685 | 5 prime UTR variant | G/C;T | snv | 1 | |||
rs2853741 | 1.000 | 0.080 | 18 | 657352 | intron variant | T/C;G | snv | 1 | |||
rs3891167 | 18 | 658423 | non coding transcript exon variant | A/G | snv | 0.26 | 1 |