Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 61 | ||
rs653178 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 23 | ||
rs7679673 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 23 | ||
rs2814778 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 11 | ||
rs34210653 | 0.807 | 0.280 | 17 | 4632019 | missense variant | G/A | snv | 2.7E-02 | 1.7E-02 | 4 | |
rs1059513 | 0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 6 | ||
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 19 | ||
rs7705526 | 0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv | 15 | |||
rs9271588 | 0.925 | 0.200 | 6 | 32623176 | TF binding site variant | T/C | snv | 0.43 | 6 | ||
rs9979383 | 0.925 | 0.200 | 21 | 35343463 | intron variant | C/G;T | snv | 5 | |||
rs174548 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 9 | |||
rs1800961 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 17 | |
rs2239630 | 0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv | 4 | |||
rs28383314 | 0.925 | 0.160 | 6 | 32619436 | regulatory region variant | T/C | snv | 0.61 | 4 | ||
rs635634 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 17 | |||
rs705699 | 0.882 | 0.160 | 12 | 55991020 | non coding transcript exon variant | G/A | snv | 0.40 | 5 | ||
rs7936323 | 0.882 | 0.160 | 11 | 76582714 | intergenic variant | G/A | snv | 0.44 | 6 | ||
rs112401631 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 8 | ||
rs34290285 | 0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 | 8 | ||
rs3755397 | 0.925 | 0.120 | 2 | 241355498 | upstream gene variant | A/G | snv | 6.8E-02 | 4 | ||
rs3893464 | 1.000 | 0.120 | 6 | 29967473 | downstream gene variant | G/A | snv | 0.46 | 3 | ||
rs4807542 | 1.000 | 0.120 | 19 | 1104079 | synonymous variant | G/A;C | snv | 0.22; 1.8E-05 | 3 | ||
rs8046011 | 1.000 | 0.120 | 16 | 11226805 | downstream gene variant | G/A;T | snv | 3 |