Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs3197999 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 16 | |
rs34762726 | 1.000 | 0.040 | 3 | 49651777 | missense variant | G/A | snv | 0.27 | 0.28 | 1 | |
rs35730843 | 0.925 | 0.080 | 11 | 62760162 | upstream gene variant | A/C;G | snv | 0.12 | 2 | ||
rs3748816 | 0.827 | 0.200 | 1 | 2595307 | missense variant | A/G | snv | 0.41 | 0.46 | 7 | |
rs3749171 | 0.807 | 0.120 | 2 | 240630275 | missense variant | C/T | snv | 0.16; 9.4E-06 | 0.19 | 9 | |
rs3822659 | 0.925 | 0.080 | 5 | 168431367 | missense variant | T/G | snv | 8.7E-02 | 0.12 | 2 | |
rs4147359 | 0.925 | 0.040 | 10 | 6066476 | upstream gene variant | G/A | snv | 0.33 | 2 | ||
rs415595 | 1.000 | 0.040 | 16 | 11269835 | intron variant | A/G | snv | 0.46 | 1 | ||
rs4391646 | 1.000 | 0.040 | 1 | 166208147 | intron variant | T/C | snv | 0.22 | 1 | ||
rs4620530 | 0.925 | 0.080 | 1 | 239900521 | intron variant | T/G | snv | 0.44 | 2 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs56258221 | 0.925 | 0.040 | 6 | 90320722 | intron variant | T/C | snv | 0.13 | 2 | ||
rs58542926 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 42 | |
rs601338 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 19 | |
rs60652743 | 0.925 | 0.040 | 19 | 46702450 | intron variant | A/G | snv | 0.16 | 2 | ||
rs633683 | 1.000 | 0.040 | 11 | 118634025 | non coding transcript exon variant | T/C | snv | 0.58 | 1 | ||
rs6678400 | 1.000 | 0.040 | 1 | 166208523 | intron variant | G/T | snv | 0.22 | 1 | ||
rs6720394 | 0.925 | 0.040 | 2 | 111231795 | intron variant | T/G | snv | 0.11 | 2 | ||
rs6822844 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 20 | ||
rs6840978 | 0.776 | 0.160 | 4 | 122633552 | intron variant | C/T | snv | 0.16 | 10 | ||
rs694739 | 0.763 | 0.320 | 11 | 64329761 | upstream gene variant | A/G | snv | 0.28 | 9 | ||
rs6971637 | 1.000 | 0.040 | 7 | 77425403 | non coding transcript exon variant | C/T | snv | 7.1E-03 | 1 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 |