Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17321515 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 16 | ||
rs515135 | 0.807 | 0.160 | 2 | 21063185 | intergenic variant | T/C | snv | 0.73 | 9 | ||
rs11880217 | 1.000 | 0.080 | 19 | 12307980 | regulatory region variant | C/T | snv | 0.19 | 1 | ||
rs2431820 | 1.000 | 0.080 | 19 | 10024608 | downstream gene variant | T/C | snv | 8.0E-02 | 1 | ||
rs7259203 | 1.000 | 0.080 | 19 | 8701483 | upstream gene variant | T/C;G | snv | 1 | |||
rs2230806 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 24 | |
rs693 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 24 | |
rs5742904 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 22 | |
rs12713559 | 0.776 | 0.120 | 2 | 21006196 | missense variant | G/A | snv | 3.4E-04 | 5.0E-04 | 10 | |
rs144467873 | 0.776 | 0.120 | 2 | 21006289 | missense variant | G/A | snv | 1.7E-04 | 6.3E-05 | 9 | |
rs200353509 | 0.882 | 0.120 | 2 | 21035701 | missense variant | G/A;C;T | snv | 4.0E-06; 6.0E-05 | 4 | ||
rs1226992086 | 0.925 | 0.080 | 2 | 21041055 | missense variant | C/G;T | snv | 4.0E-06 | 2 | ||
rs12720762 | 0.925 | 0.080 | 2 | 21043787 | intron variant | C/G | snv | 4.8E-03 | 2 | ||
rs146377316 | 0.925 | 0.080 | 2 | 21007693 | missense variant | G/A;T | snv | 8.0E-06 | 2 | ||
rs151009667 | 0.925 | 0.080 | 2 | 21011802 | missense variant | C/T | snv | 1.3E-03 | 1.4E-03 | 2 | |
rs1553385404 | 0.925 | 0.080 | 2 | 21022861 | frameshift variant | G/-;GG | delins | 2 | |||
rs562574661 | 0.925 | 0.080 | 2 | 21001940 | inframe deletion | CTG/- | delins | 2.2E-04 | 2 | ||
rs1060499841 | 1.000 | 0.080 | 2 | 21043911 | frameshift variant | A/- | del | 1 | |||
rs1135402762 | 1.000 | 0.080 | 2 | 21043907 | frameshift variant | C/- | del | 1 | |||
rs1135402764 | 1.000 | 0.080 | 2 | 21019101 | frameshift variant | T/- | delins | 1 | |||
rs1135402765 | 1.000 | 0.080 | 2 | 21012278 | frameshift variant | G/- | delins | 1 | |||
rs1135402766 | 1.000 | 0.080 | 2 | 21004677 | splice acceptor variant | T/G | snv | 1 | |||
rs1339117465 | 1.000 | 0.080 | 2 | 21002271 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs1382988295 | 1.000 | 0.080 | 2 | 21006686 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs1418775778 | 1.000 | 0.080 | 2 | 21006144 | missense variant | C/A;T | snv | 4.0E-06 | 1 |