Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs12980275 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 23 | ||
rs13361189 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 13 | ||
rs3865188 | 0.790 | 0.320 | 16 | 82617112 | intergenic variant | A/G;T | snv | 10 | |||
rs6834314 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 10 | ||
rs17007417 | 0.882 | 0.080 | 2 | 71808541 | regulatory region variant | T/C | snv | 0.85 | 3 | ||
rs12743824 | 0.925 | 0.040 | 1 | 99317401 | intergenic variant | C/A | snv | 0.48 | 2 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1800588 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 16 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs940553638 | 0.827 | 0.200 | 12 | 111783222 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 6 | |
rs1553403917 | 0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins | 7 | |||
rs2854116 | 0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 | 7 | ||
rs2070666 | 0.882 | 0.120 | 11 | 116830958 | intron variant | T/A;C | snv | 4 | |||
rs74315468 | 0.882 | 0.040 | 22 | 50626841 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 3 | |
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs1800777 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 17 | |
rs3213445 | 0.851 | 0.120 | 22 | 50577409 | missense variant | T/C | snv | 0.12 | 8.9E-02 | 4 | |
rs12784396 | 0.925 | 0.040 | 10 | 100267650 | 5 prime UTR variant | C/A;T | snv | 4 | |||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs2862954 | 0.925 | 0.040 | 10 | 100152307 | missense variant | T/C | snv | 0.34 | 0.32 | 2 | |
rs2645424 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 5 | ||
rs3480 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 8 |