Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3753841 | 0.827 | 0.080 | 1 | 102914362 | missense variant | G/A | snv | 0.61 | 0.49 | 7 | |
rs2252070 | 0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 | 13 | ||
rs4910118 | 11 | 10308138 | upstream gene variant | C/T | snv | 3.5E-02 | 2 | ||||
rs710100 | 1.000 | 0.040 | 14 | 103135941 | missense variant | A/G | snv | 0.64 | 0.59 | 3 | |
rs8126 | 0.807 | 0.080 | 14 | 103137232 | 3 prime UTR variant | C/T | snv | 0.63 | 8 | ||
rs1052823 | 1.000 | 0.040 | 14 | 103137233 | 3 prime UTR variant | G/A;C;T | snv | 0.15 | 3 | ||
rs1052912 | 1.000 | 0.040 | 14 | 103137316 | 3 prime UTR variant | G/A | snv | 0.13 | 3 | ||
rs111853599 | 4 | 103196214 | missense variant | A/G | snv | 4.0E-06 | 2 | ||||
rs745564626 | 0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 | 14 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs149642280 | 14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 | 2 | |||
rs1799794 | 0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 | 12 | ||
rs2487999 | 10 | 103900068 | missense variant | T/A;C | snv | 4.0E-06; 0.91 | 2 | ||||
rs4135113 | 0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 | 5 | ||
rs4925 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 28 | |
rs156697 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 25 | ||
rs2498794 | 14 | 104778914 | intron variant | A/G | snv | 0.54 | 2 | ||||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs2494752 | 0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 | 10 | ||
rs2230806 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 24 | |
rs314276 | 0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 | 10 | ||
rs71305152 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 5 | ||
rs755683317 | 21 | 10567746 | missense variant | G/A;C | snv | 2.4E-05 | 3 | ||||
rs767132637 | 1.000 | 0.080 | 7 | 106867617 | missense variant | G/A | snv | 1.6E-05 | 3 | ||
rs1226994105 | 0.882 | 0.040 | 7 | 106868379 | missense variant | G/A | snv | 8.0E-06 | 5 |