Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs11568818 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 15 | |||
rs1273593548 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 19 | ||
rs121918464 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 25 | |||
rs773862672 | 0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 | 6 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs762807774 | 1.000 | 0.040 | 1 | 1228495 | frameshift variant | CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC | delins | 7.0E-06 | 2 | ||
rs1057519771 | 1.000 | 0.080 | 9 | 130872201 | missense variant | G/C | snv | 2 | |||
rs104893626 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 11 | |||
rs752021744 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 29 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1285136498 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 13 | |||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs2073778 | 22 | 20087052 | non coding transcript exon variant | C/T | snv | 0.12 | 1 | ||||
rs720012 | 22 | 20111059 | 3 prime UTR variant | G/A | snv | 0.12 | 1 | ||||
rs438034 | 0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 | 4 | ||
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs200863613 | 0.925 | 0.080 | 9 | 21971061 | missense variant | C/A;T | snv | 8.5E-05 | 3.7E-04 | 6 | |
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs9282861 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 31 |