Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs5333 | 0.827 | 0.280 | 4 | 147539885 | synonymous variant | T/C | snv | 0.28 | 0.34 | 5 | |
rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 20 | |
rs74315342 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 10 | |
rs200482683 | 0.827 | 0.120 | 1 | 179552608 | missense variant | C/T | snv | 1.1E-04 | 1.1E-04 | 6 | |
rs778055996 | 0.925 | 0.080 | 1 | 179557122 | stop gained | G/A;C | snv | 1.2E-05; 8.4E-05 | 2 | ||
rs749740335 | 0.925 | 0.080 | 1 | 179552620 | frameshift variant | TT/- | delins | 6.8E-05 | 9.1E-05 | 3 | |
rs200587413 | 1.000 | 0.080 | 1 | 179557143 | missense variant | C/T | snv | 5.2E-05 | 2.1E-05 | 1 | |
rs200913299 | 1.000 | 0.080 | 1 | 179564779 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 1 | |
rs750332447 | 1.000 | 0.080 | 1 | 179564703 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 | 1 | ||
rs74315348 | 0.925 | 0.080 | 1 | 179552605 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 2 | ||
rs776859868 | 1.000 | 0.080 | 1 | 179551360 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05; 2.0E-05 | 1 | ||
rs561887984 | 1.000 | 0.080 | 1 | 179575780 | missense variant | C/T | snv | 2.0E-05 | 2.4E-04 | 1 | |
rs775006954 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 2 | |
rs74315343 | 0.851 | 0.080 | 1 | 179561328 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs530318579 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 6 | ||
rs74315347 | 0.925 | 0.080 | 1 | 179557227 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs775170915 | 0.925 | 0.080 | 1 | 179551377 | frameshift variant | A/- | del | 1.2E-05 | 2 | ||
rs12568913 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 2 | ||
rs1477180313 | 1.000 | 0.080 | 1 | 179575777 | stop gained | C/A;T | snv | 9.9E-06 | 1 | ||
rs748812981 | 0.851 | 0.080 | 1 | 179557051 | missense variant | C/A | snv | 8.0E-06; 4.0E-06 | 2.8E-05 | 4 |