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 | |
rs58598099 | 0.882 | 0.200 | 16 | 2116917 | missense variant | A/G | snv | 3 | |||
rs754868200 | 0.925 | 0.200 | 4 | 88052022 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs121918043 | 0.925 | 0.120 | 4 | 88046854 | missense variant | A/T | snv | 2 | |||
rs1187336837 | 1.000 | 0.120 | 4 | 88007931 | frameshift variant | C/-;CC | delins | 1 | |||
rs11122577 | 1.000 | 0.120 | 1 | 230711810 | intron variant | C/A | snv | 0.19 | 2 | ||
rs746231889 | 1.000 | 0.120 | 19 | 11447152 | missense variant | C/A;G;T | snv | 4.0E-06; 1.9E-04 | 1 | ||
rs778235410 | 0.925 | 0.120 | 4 | 88067946 | stop gained | C/G;T | snv | 2.4E-05; 1.2E-05 | 2 | ||
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 | ||
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 | |||
rs1392093609 | 1.000 | 0.120 | 4 | 88007759 | missense variant | C/T | snv | 1 | |||
rs1553926905 | 1.000 | 0.120 | 4 | 88056143 | stop gained | C/T | snv | 1 | |||
rs749004212 | 1.000 | 0.120 | 4 | 88038365 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs1232369409 | 1.000 | 0.120 | 4 | 88008244 | frameshift variant | G/- | delins | 7.0E-06 | 1 | ||
rs1555452849 | 1.000 | 0.120 | 16 | 2106172 | frameshift variant | G/- | delins | 1 | |||
rs1560592253 | 1.000 | 0.120 | 4 | 88008174 | frameshift variant | G/- | delins | 1 | |||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs1131692280 | 0.925 | 0.120 | 4 | 88043458 | splice donor variant | G/A | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs1553927080 | 1.000 | 0.120 | 4 | 88058104 | splice donor variant | G/A | snv | 1 | |||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs4961 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 27 | ||
rs886041114 | 1.000 | 0.120 | 4 | 88046642 | missense variant | G/A;T | snv | 4.0E-06 | 2 |