Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519696 | 1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv | 1 | |||
rs2279574 | 0.827 | 0.120 | 12 | 89351700 | missense variant | C/A;T | snv | 0.52 | 1 | ||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 1 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 1 | |||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 1 | |||
rs146795390 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs397517108 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 1 | |||
rs3811047 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 1 | |
rs876658657 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs199769221 | 0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 1 | ||
rs2853669 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 1 | ||
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 1 | ||
rs10937405 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 1 | ||
rs12296850 | 0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 | 2 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs2072671 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 2 | |
rs2229094 | 0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 | 2 | |
rs2239704 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 2 | ||
rs909253 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 2 | |||
rs1799724 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 2 | ||
rs16906252 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 2 | |
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 2 | |
rs2070803 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 2 | ||
rs3114020 | 0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 | 3 |