Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1568724014 | 0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv | 2 | |||
rs193922262 | 0.925 | 0.080 | 7 | 44145636 | stop gained | C/A;G | snv | 4.3E-06 | 2 | ||
rs193922287 | 0.925 | 0.080 | 7 | 44153334 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs397514580 | 0.925 | 0.080 | 7 | 44146467 | missense variant | C/T | snv | 2 | |||
rs534828104 | 0.925 | 0.080 | 3 | 186618566 | missense variant | A/G | snv | 2 | |||
rs556581174 | 0.925 | 0.080 | 7 | 44145637 | stop gained | G/A;C;T | snv | 2 | |||
rs751279776 | 0.925 | 0.080 | 7 | 44149986 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs764437500 | 0.925 | 0.080 | 9 | 137716697 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs776793516 | 0.925 | 0.080 | 12 | 120997492 | frameshift variant | CA/- | delins | 4.0E-06 | 2 | ||
rs9906827 | 0.925 | 0.120 | 17 | 80691605 | intron variant | C/A;T | snv | 2 | |||
rs1018185646 | 1.000 | 0.040 | 20 | 44428455 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs1447680989 | 1.000 | 0.040 | 2 | 27501147 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs746913146 | 1.000 | 0.040 | 7 | 44149816 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs750931344 | 1.000 | 0.040 | 12 | 46769424 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs755498926 | 1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-06 | 1 | ||
rs775776658 | 1.000 | 0.040 | 11 | 17474926 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 | 1 | ||
rs267607555 | 0.807 | 0.280 | 1 | 156136009 | missense variant | C/T | snv | 7.0E-06 | 6 | ||
rs193922331 | 0.882 | 0.080 | 7 | 44147726 | missense variant | A/G | snv | 7.0E-06 | 4 | ||
rs137853240 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 8 | ||
rs1272388614 | 0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 5 | |
rs59852838 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 3 | |
rs953686324 | 0.851 | 0.160 | 1 | 16044506 | frameshift variant | -/G | delins | 4.3E-06 | 5.6E-05 | 7 | |
rs572115942 | 0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 7 | |
rs373269573 | 0.925 | 0.080 | 9 | 137711015 | missense variant | G/A | snv | 1.6E-04 | 9.1E-05 | 2 | |
rs11202592 | 0.851 | 0.200 | 10 | 87864461 | 5 prime UTR variant | C/G | snv | 3.8E-03 | 1.4E-03 | 5 |