Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs642961 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 14 | ||
rs135745 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 13 | ||
rs708111 | 0.882 | 0.120 | 1 | 228003664 | upstream gene variant | G/A | snv | 0.48 | 4 | ||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs61573157 | 0.882 | 0.160 | 10 | 70760503 | missense variant | C/T | snv | 8.6E-02 | 7.5E-02 | 6 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs1800625 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 39 | ||
rs1800870 | 0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv | 5 | |||
rs2306058 | 1.000 | 0.080 | 4 | 73076961 | synonymous variant | C/T | snv | 0.17 | 0.13 | 2 | |
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs2071676 | 0.925 | 0.120 | 9 | 35674056 | missense variant | G/A | snv | 0.37 | 0.30 | 4 | |
rs1864183 | 0.742 | 0.240 | 5 | 82253397 | missense variant | C/T | snv | 0.52 | 0.40 | 12 | |
rs3759601 | 0.790 | 0.240 | 14 | 96311131 | missense variant | G/C | snv | 0.36 | 0.32 | 7 | |
rs189037 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 22 | ||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs1047972 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 19 | |
rs1473418 | 1.000 | 0.080 | 18 | 63319316 | 5 prime UTR variant | C/G | snv | 0.98 | 2 | ||
rs1950252 | 1.000 | 0.080 | 14 | 23309489 | 3 prime UTR variant | A/G | snv | 0.93 | 2 | ||
rs8190315 | 0.851 | 0.240 | 22 | 17743998 | missense variant | T/C | snv | 2.4E-02 | 3.6E-02 | 5 | |
rs1048638 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 10 | |||
rs3829078 | 0.851 | 0.160 | 9 | 35679254 | missense variant | A/G;T | snv | 8.2E-02 | 6 | ||
rs13010627 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 10 | |
rs511044 | 0.925 | 0.120 | 11 | 105024783 | upstream gene variant | T/C | snv | 3 | |||
rs2227310 | 0.807 | 0.160 | 10 | 113729393 | missense variant | C/G | snv | 0.26 | 0.23 | 9 | |
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 |