Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs4362 | 0.807 | 0.240 | 17 | 63496400 | missense variant | T/C;G | snv | 0.52; 1.2E-05 | 0.51 | 9 | |
rs4961 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 27 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs11122577 | 1.000 | 0.120 | 1 | 230711810 | intron variant | C/A | snv | 0.19 | 2 | ||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs750723025 | 1.000 | 0.120 | 11 | 62646584 | inframe deletion | TACCGC/- | delins | 7.0E-06 | 1 | ||
rs1555452849 | 1.000 | 0.120 | 16 | 2106172 | frameshift variant | G/- | delins | 1 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs58598099 | 0.882 | 0.200 | 16 | 2116917 | missense variant | A/G | snv | 3 | |||
rs1131692280 | 0.925 | 0.120 | 4 | 88043458 | splice donor variant | G/A | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs1060503526 | 0.925 | 0.120 | 4 | 88038380 | stop gained | C/T | snv | 1.2E-05 | 2 | ||
rs121918040 | 0.925 | 0.120 | 4 | 88065479 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs121918043 | 0.925 | 0.120 | 4 | 88046854 | missense variant | A/T | snv | 2 | |||
rs1302726543 | 0.925 | 0.120 | 4 | 88019499 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs1553925453 | 0.925 | 0.120 | 4 | 88038371 | missense variant | C/T | snv | 2 | |||
rs754868200 | 0.925 | 0.200 | 4 | 88052022 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs778235410 | 0.925 | 0.120 | 4 | 88067946 | stop gained | C/G;T | snv | 2.4E-05; 1.2E-05 | 2 | ||
rs886041114 | 1.000 | 0.120 | 4 | 88046642 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
rs1187336837 | 1.000 | 0.120 | 4 | 88007931 | frameshift variant | C/-;CC | delins | 1 | |||
rs1232369409 | 1.000 | 0.120 | 4 | 88008244 | frameshift variant | G/- | delins | 7.0E-06 | 1 | ||
rs1391596181 | 1.000 | 0.120 | 4 | 88046647 | stop gained | T/A;C | snv | 4.0E-06 | 1 | ||
rs1392093609 | 1.000 | 0.120 | 4 | 88007759 | missense variant | C/T | snv | 1 | |||
rs1553926509 | 1.000 | 0.120 | 4 | 88052018 | frameshift variant | TA/- | delins | 1 |