Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
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 | |
rs5063 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 12 | |
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs1169288 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 21 | ||
rs2464196 | 0.742 | 0.320 | 12 | 120997624 | missense variant | G/A | snv | 0.34 | 0.27 | 17 | |
rs17568 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 12 | |
rs12369179 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 16 | ||
rs12779790 | 0.882 | 0.120 | 10 | 12286011 | intergenic variant | A/G | snv | 0.17 | 5 | ||
rs12420422 | 0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 | 16 | ||
rs7632505 | 0.827 | 0.120 | 3 | 123019460 | intron variant | A/G | snv | 0.34 | 17 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs74830677 | 0.882 | 0.080 | 12 | 124800125 | missense variant | G/A | snv | 9.9E-04 | 6.7E-04 | 6 | |
rs2980853 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 16 | ||
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs1869717 | 0.851 | 0.120 | 4 | 139829967 | intron variant | G/C | snv | 0.14 | 16 | ||
rs56149945 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 49 | ||
rs222826 | 0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 | 16 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 |