Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2070959 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 3 | |
rs3749147 | 0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 | 3 | |
rs7578326 | 0.882 | 0.080 | 2 | 226155937 | TF binding site variant | A/G | snv | 0.36 | 3 | ||
rs12988520 | 1.000 | 0.040 | 2 | 233698748 | intron variant | A/C | snv | 0.51 | 2 | ||
rs13022873 | 0.882 | 0.120 | 2 | 27592643 | intron variant | A/C;T | snv | 2 | |||
rs2361502 | 1.000 | 0.040 | 2 | 233790144 | intron variant | T/C | snv | 0.30 | 2 | ||
rs2741027 | 1.000 | 0.040 | 2 | 233609365 | downstream gene variant | G/A | snv | 0.22 | 2 | ||
rs2241883 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 1 | |
rs2293571 | 0.882 | 0.120 | 2 | 27506613 | non coding transcript exon variant | G/A | snv | 0.40 | 0.39 | 1 | |
rs2544390 | 0.925 | 0.080 | 2 | 169348336 | intron variant | C/T | snv | 0.45 | 1 | ||
rs569805 | 1.000 | 0.040 | 2 | 168926370 | intron variant | A/T | snv | 0.73 | 1 | ||
rs6711016 | 1.000 | 0.040 | 2 | 20923592 | intergenic variant | C/A | snv | 0.19 | 1 | ||
rs7575840 | 1.000 | 0.040 | 2 | 21050618 | intergenic variant | G/T | snv | 0.26 | 1 | ||
rs782590 | 1.000 | 0.040 | 2 | 55616277 | intron variant | C/T | snv | 0.44 | 1 | ||
rs8179252 | 0.882 | 0.120 | 2 | 27523965 | downstream gene variant | A/C | snv | 0.37 | 1 | ||
rs11708067 | 0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 | 5 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 5 | |
rs900400 | 0.925 | 0.080 | 3 | 157080986 | upstream gene variant | T/C | snv | 0.36 | 5 | ||
rs1797912 | 1.000 | 0.040 | 3 | 12428740 | intron variant | A/C | snv | 0.33 | 2 | ||
rs6439106 | 1.000 | 0.040 | 3 | 128000111 | intron variant | C/T | snv | 0.13 | 2 | ||
rs4402960 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 1 | ||
rs7612463 | 0.925 | 0.080 | 3 | 23294959 | intron variant | C/A;G | snv | 1 | |||
rs10938397 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 8 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 5 | ||
rs2282679 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 3 |