Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs146515657 | 3 | 49292533 | missense variant | T/C | snv | 1.1E-04 | 3.1E-04 | 1 | |||
rs149808404 | 11 | 116790406 | stop gained | G/A;C | snv | 4.1E-05; 8.1E-06 | 1 | ||||
rs2229416 | 17 | 37252940 | synonymous variant | C/T | snv | 0.18 | 0.12 | 1 | |||
rs2293869 | 8 | 54626835 | missense variant | A/T | snv | 0.34 | 0.33 | 1 | |||
rs2425955 | 20 | 47540255 | intron variant | G/T | snv | 0.47 | 1 | ||||
rs4635554 | 2 | 21166787 | intergenic variant | T/G | snv | 0.37 | 1 | ||||
rs6074 | 15 | 58568764 | synonymous variant | C/A;G | snv | 0.19; 2.8E-05 | 1 | ||||
rs6094753 | 20 | 47630030 | intron variant | G/A | snv | 0.47 | 1 | ||||
rs672059 | 1 | 183193404 | intron variant | G/A | snv | 0.57 | 1 | ||||
rs754698878 | 16 | 869919 | stop gained | G/C | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs759009903 | 17 | 63484413 | missense variant | C/G;T | snv | 1.6E-05 | 1 | ||||
rs912378886 | 19 | 4155009 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 1 | |||
rs9906543 | 17 | 37162308 | intron variant | T/A;C | snv | 1 | |||||
rs7350481 | 0.882 | 0.040 | 11 | 116715567 | regulatory region variant | T/C | snv | 0.93 | 8 | ||
rs3828599 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 5 | ||
rs2297322 | 1.000 | 0.040 | 13 | 98723927 | missense variant | C/G;T | snv | 0.22 | 4 | ||
rs633389 | 1.000 | 0.040 | 11 | 116796621 | upstream gene variant | C/T | snv | 0.13 | 4 | ||
rs1028728 | 0.925 | 0.040 | 13 | 37599679 | upstream gene variant | A/T | snv | 0.20 | 3 | ||
rs2454727 | 0.925 | 0.040 | 12 | 122702333 | missense variant | C/T | snv | 3 | |||
rs3829365 | 0.925 | 0.040 | 13 | 37598759 | 5 prime UTR variant | G/A;C | snv | 4.0E-06; 0.11 | 3 | ||
rs7314976 | 0.925 | 0.040 | 12 | 122702353 | missense variant | G/A;C | snv | 3.9E-02; 4.5E-06 | 3 | ||
rs761886494 | 0.925 | 0.040 | 8 | 19955870 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 3 | |
rs1335550286 | 1.000 | 0.040 | 19 | 44909005 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs1451659304 | 1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv | 2 | |||
rs1468271 | 1.000 | 0.040 | 7 | 24287362 | intron variant | C/T | snv | 0.97 | 2 |