Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 20 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 10 | |
rs646776 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 10 | ||
rs6511720 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 10 | ||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 9 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 9 | ||
rs405509 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 8 | ||
rs11206510 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 7 | |||
rs1051730 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 7 | |
rs8067378 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 6 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 6 | ||
rs4803750 | 0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 | 6 | ||
rs4299376 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 6 | |||
rs10455872 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 6 | ||
rs7412 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 5 | |
rs4977756 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 5 | ||
rs3846662 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 5 | |
rs12203592 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 5 | ||
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 5 | |
rs1333040 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 4 | |||
rs1805007 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 4 | ||
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 4 | |||
rs2274223 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 3 | |
rs16891982 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 3 | ||
rs11571833 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 2 |