Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs11887534 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 29 | ||
rs20575 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 29 | |
rs693 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 24 | |
rs708272 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 24 | |
rs1801132 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 22 | |
rs1800961 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 21 | |
rs887829 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 18 | ||
rs2287622 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 16 | ||
rs3808607 | 0.716 | 0.400 | 8 | 58500365 | upstream gene variant | G/T | snv | 0.55 | 16 | ||
rs2306283 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 16 | ||
rs8175347 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 16 | |||
rs6742078 | 0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 | 13 | ||
rs1042838 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 12 | ||
rs4148217 | 0.790 | 0.280 | 2 | 43872294 | missense variant | C/A;T | snv | 0.21; 1.2E-05 | 11 | ||
rs3824260 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 11 | |||
rs4299376 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 11 | |||
rs6557634 | 0.763 | 0.080 | 8 | 23202743 | missense variant | T/C | snv | 11 | |||
rs4245791 | 0.882 | 0.080 | 2 | 43847292 | non coding transcript exon variant | C/A;T | snv | 8 | |||
rs4953023 | 0.925 | 0.040 | 2 | 43846861 | non coding transcript exon variant | G/A | snv | 6.9E-02 | 6 | ||
rs2072183 | 0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 | 6 |