Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12134493 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 4 | ||
rs10774231 | 12 | 4406208 | downstream gene variant | T/C | snv | 0.51 | 1 | ||||
rs12740679 | 1 | 150289855 | upstream gene variant | C/G | snv | 0.25 | 1 | ||||
rs34097149 | 3 | 154545386 | intergenic variant | T/C | snv | 2.0E-02 | 1 | ||||
rs4941139 | 18 | 62495558 | intergenic variant | T/C | snv | 0.31 | 1 | ||||
rs7555006 | 1 | 51014586 | intergenic variant | A/G | snv | 0.48 | 1 | ||||
rs9490318 | 6 | 121539061 | downstream gene variant | C/T | snv | 0.16 | 1 | ||||
rs3761422 | 1.000 | 0.040 | 22 | 24430704 | intron variant | T/C | snv | 0.62 | 4 | ||
rs864321670 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 24 | |||
rs17220352 | 9 | 116485780 | intron variant | A/G | snv | 0.21 | 1 | ||||
rs56349329 | 11 | 46673933 | 3 prime UTR variant | G/A | snv | 0.14 | 1 | ||||
rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 18 | |||
rs1555639076 | 0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins | 16 | |||
rs80359473 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 12 | |||
rs2072806 | 1.000 | 0.040 | 6 | 26384865 | intron variant | C/G | snv | 7.7E-02 | 2 | ||
rs2895526 | 10 | 12684062 | intron variant | T/A;G | snv | 1 | |||||
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
rs1051730 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 43 | |
rs797045032 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 11 | |||
rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
rs6275 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 7 | |
rs867770797 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 8 |