Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2736337 | 0.827 | 0.240 | 8 | 11484371 | upstream gene variant | T/C | snv | 0.26 | 5 | ||
rs2736340 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 22 | ||
rs13277113 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 18 | ||
rs922483 | 0.882 | 0.200 | 8 | 11494403 | 5 prime UTR variant | C/T | snv | 0.31 | 3 | ||
rs2248932 | 0.882 | 0.160 | 8 | 11534141 | intron variant | A/G | snv | 0.60 | 3 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs3761847 | 0.827 | 0.200 | 9 | 120927961 | intron variant | G/A | snv | 0.52 | 8 | ||
rs10818488 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 8 | ||
rs2900180 | 0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv | 5 | |||
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
rs6822844 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 20 | ||
rs907715 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 11 | ||
rs2221903 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 12 | ||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs8177374 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 22 | |
rs4937333 | 0.882 | 0.120 | 11 | 128460625 | 3 prime UTR variant | T/C | snv | 0.45 | 4 | ||
rs179008 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 14 | |
rs3853839 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 10 | |||
rs729302 | 0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 | 6 | ||
rs4728142 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 18 | ||
rs2004640 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 26 |