Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
rs1464816 | 1.000 | 0.120 | 1 | 204159726 | intron variant | T/C;G | snv | 2 | |||
rs4961 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 27 | ||
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 | |||
rs1553926905 | 1.000 | 0.120 | 4 | 88056143 | stop gained | C/T | snv | 1 | |||
rs1553927080 | 1.000 | 0.120 | 4 | 88058104 | splice donor variant | G/A | snv | 1 | |||
rs1560592253 | 1.000 | 0.120 | 4 | 88008174 | frameshift variant | G/- | delins | 1 | |||
rs749004212 | 1.000 | 0.120 | 4 | 88038365 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 |