Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 7 | |||
rs55770810 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 7 | ||
rs80357382 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 7 | ||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 7 | ||
rs121913121 | 0.851 | 0.320 | 1 | 241513661 | missense variant | T/G | snv | 6 | |||
rs1800440 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 6 | ||
rs3094054 | 0.807 | 0.280 | 6 | 30365728 | upstream gene variant | G/A;T | snv | 6 | |||
rs4245739 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 6 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 6 | ||
rs63749795 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 6 | |||
rs80359306 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 6 | |||
rs121918279 | 0.851 | 0.240 | 11 | 44108226 | stop gained | C/G;T | snv | 4.0E-06 | 5 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 5 | ||
rs28897743 | 0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 | 5 | ||
rs41293459 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 5 | ||
rs4810485 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 5 | |||
rs775248597 | 0.851 | 0.120 | 11 | 108229185 | stop gained | C/G;T | snv | 8.1E-06 | 5 | ||
rs80357474 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 5 | ||
rs80357678 | 0.851 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del | 5 | |||
rs80359770 | 0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins | 5 | |||
rs864622149 | 0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv | 5 | |||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 4 | |||
rs1800057 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 4 | ||
rs180177097 | 0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv | 4 | |||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 4 |