Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121434596 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 26 | ||
rs3219489 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 24 | |
rs2295080 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 20 | |||
rs9350 | 0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 | 16 | |
rs2808630 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 13 | ||
rs12733285 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 12 | ||
rs1342387 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 12 | ||
rs6691170 | 0.776 | 0.080 | 1 | 221872104 | intergenic variant | G/T | snv | 0.34 | 12 | ||
rs6687758 | 0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 | 11 | ||
rs369410616 | 0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 | 10 | |
rs5277 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 9 | ||
rs7539542 | 0.807 | 0.200 | 1 | 202940846 | 3 prime UTR variant | G/C | snv | 0.58 | 9 | ||
rs368705607 | 0.882 | 0.120 | 1 | 226225766 | missense variant | T/C;G | snv | 2.8E-05; 4.0E-06 | 7 | ||
rs4149963 | 0.851 | 0.120 | 1 | 241872080 | missense variant | C/T | snv | 0.11; 6.8E-05 | 7.6E-02 | 7 | |
rs8679 | 0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 | 7 | ||
rs1801160 | 0.807 | 0.240 | 1 | 97305364 | missense variant | C/T | snv | 4.7E-02 | 3.9E-02 | 6 | |
rs12037879 | 0.925 | 0.080 | 1 | 65477024 | intron variant | G/A;T | snv | 5 | |||
rs12904 | 0.827 | 0.160 | 1 | 155134221 | 3 prime UTR variant | G/A | snv | 0.40 | 5 | ||
rs143353451 | 0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 5 | ||
rs765123255 | 0.851 | 0.120 | 1 | 45333436 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 5 | |
rs138551214 | 0.925 | 0.080 | 1 | 22909025 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs6702619 | 0.851 | 0.200 | 1 | 99580690 | intron variant | T/G | snv | 0.35 | 4 | ||
rs932335 | 0.851 | 0.120 | 1 | 209732389 | intron variant | G/C | snv | 0.21 | 0.21 | 4 | |
rs34296044 | 0.925 | 0.080 | 1 | 241885371 | frameshift variant | C/- | delins | 3 | |||
rs1065411 | 0.925 | 0.080 | 1 | 109690516 | missense variant | G/A;C;T | snv | 0.36; 6.9E-06 | 2 |