Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs3747093 | 0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 | 16 | ||
rs11685387 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 9 | ||
rs9288518 | 0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 | 9 | ||
rs6869366 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 18 | ||
rs28360317 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 15 | ||
rs3734091 | 0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 | 19 | |
rs3218408 | 0.882 | 0.120 | 7 | 152670531 | intron variant | A/C;T | snv | 3 | |||
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
rs1801195 | 0.776 | 0.240 | 8 | 31141764 | missense variant | G/A;T | snv | 8.0E-06; 0.45 | 0.46 | 8 | |
rs2230009 | 0.827 | 0.240 | 8 | 31064419 | missense variant | G/A | snv | 5.8E-02 | 7.8E-02 | 5 | |
rs10506868 | 0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 | 16 | ||
rs11196067 | 0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 | 10 | ||
rs12241008 | 0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 | 16 | ||
rs7086803 | 0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 | 9 | ||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs3025039 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 62 | ||
rs833061 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 42 | |||
rs1989969 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 8 |