Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 47 | |
rs2230912 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 16 | |
rs28360457 | 0.882 | 0.200 | 12 | 121175426 | missense variant | G/A | snv | 8.6E-03 | 1.1E-02 | 3 | |
rs1653624 | 0.925 | 0.120 | 12 | 121184717 | missense variant | T/A | snv | 1.5E-02 | 2 | ||
rs9525641 | 0.925 | 0.080 | 13 | 42573888 | intron variant | T/C | snv | 0.47 | 3 | ||
rs9536314 | 0.925 | 0.160 | 13 | 33054001 | missense variant | T/A;G | snv | 0.14 | 3 | ||
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs700518 | 0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 | 13 | |
rs749292 | 0.851 | 0.160 | 15 | 51266534 | intron variant | G/A | snv | 0.44 | 4 | ||
rs3087456 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 14 | ||
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs139751598 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 13 | |
rs72645347 | 0.790 | 0.280 | 17 | 50196337 | missense variant | G/A | snv | 10 | |||
rs1423415130 | 0.851 | 0.120 | 17 | 50360241 | missense variant | G/A | snv | 7.0E-06 | 6 | ||
rs1057518930 | 1.000 | 0.080 | 17 | 50197009 | splice donor variant | C/G | snv | 3 | |||
rs72648365 | 0.925 | 0.240 | 17 | 50193990 | missense variant | G/A;C | snv | 2 | |||
rs72656307 | 0.925 | 0.240 | 17 | 50187968 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 2 | |
rs1473998316 | 1.000 | 0.080 | 17 | 50195926 | synonymous variant | A/G | snv | 1 | |||
rs151344517 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 31 | |||
rs429358 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 66 | |
rs7412 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 47 | |
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 |