Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs2282679 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 38 | ||
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs1057519824 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 10 | |||
rs762471803 | 0.925 | 0.040 | 11 | 102114201 | missense variant | T/G | snv | 6 | |||
rs768827923 | 0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv | 6 | |||
rs1131692237 | 1.000 | 0.040 | 17 | 39725161 | missense variant | T/G | snv | 2 | |||
rs121913364 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 34 | ||
rs1760944 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 26 | |||
rs4149117 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 15 | ||
rs653765 | 0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 | 10 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs752021744 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 29 | ||
rs2536 | 0.776 | 0.240 | 1 | 11106656 | 3 prime UTR variant | T/C | snv | 5.8E-02 | 11 | ||
rs1478604 | 0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 | 9 | ||
rs2119882 | 0.807 | 0.320 | 4 | 186555751 | upstream gene variant | T/C | snv | 0.57 | 9 | ||
rs3774937 | 0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 | 9 | ||
rs1057519864 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 8 |