Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs2305619 | 0.882 | 0.240 | 3 | 157437072 | intron variant | A/G | snv | 0.55 | 0.50 | 3 | |
rs1881984 | 1.000 | 0.040 | 3 | 169746671 | intergenic variant | A/G | snv | 0.30 | 1 | ||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs2227306 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 21 | ||
rs2227307 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 6 | ||
rs28673968 | 1.000 | 0.040 | 4 | 89655739 | intron variant | T/C | snv | 0.37 | 1 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 29 | |||
rs199422294 | 0.827 | 0.160 | 5 | 1280216 | missense variant | C/T | snv | 5 | |||
rs121918666 | 0.882 | 0.160 | 5 | 1266524 | missense variant | C/T | snv | 8.2E-06 | 7.0E-06 | 3 | |
rs1060502990 | 0.925 | 0.040 | 5 | 1294549 | frameshift variant | -/G | delins | 2 | |||
rs1554038257 | 0.925 | 0.040 | 5 | 1255333 | frameshift variant | GA/- | delins | 2 | |||
rs1554042899 | 0.925 | 0.040 | 5 | 1293837 | frameshift variant | AG/- | delins | 2 | |||
rs1554043139 | 0.925 | 0.040 | 5 | 1294810 | stop gained | C/G;T | snv | 2 | |||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs5029939 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 19 | ||
rs2227956 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 12 | ||
rs1043618 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 10 | ||
rs2075800 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 8 | |
rs1061581 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 6 |