Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs758022116 | 0.790 | 0.280 | 20 | 38535152 | missense variant | G/T | snv | 4.0E-06 | 13 | ||
rs121909173 | 0.851 | 0.240 | 3 | 57199901 | missense variant | C/G | snv | 2.8E-05 | 1.4E-05 | 5 | |
rs104893742 | 0.882 | 0.160 | 3 | 57198405 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 3 | |
rs1238248024 | 0.925 | 0.080 | 3 | 57198953 | splice acceptor variant | C/A;G | snv | 2 | |||
rs28936416 | 0.925 | 0.120 | 3 | 57199842 | missense variant | A/G | snv | 2 | |||
rs754137696 | 0.925 | 0.160 | 3 | 57198797 | missense variant | A/C | snv | 1.9E-04 | 1.4E-05 | 2 | |
rs768165720 | 0.925 | 0.120 | 3 | 57198784 | missense variant | C/T | snv | 7.6E-05 | 1.1E-04 | 2 | |
rs777223697 | 0.925 | 0.160 | 3 | 57198802 | stop gained | A/T | snv | 8.0E-06 | 2 | ||
rs777833871 | 0.925 | 0.160 | 3 | 57198870 | frameshift variant | T/- | del | 1.4E-05 | 2 | ||
rs9878928 | 0.925 | 0.080 | 3 | 57198476 | missense variant | T/C | snv | 1.8E-02 | 7.4E-02 | 2 | |
rs1064795738 | 0.925 | 0.120 | 12 | 49185651 | missense variant | T/G | snv | 2 | |||
rs140670828 | 1.000 | 0.080 | X | 8587965 | missense variant | C/G | snv | 2.1E-04 | 1.9E-04 | 1 | |
rs370632378 | 1.000 | 0.080 | X | 8570690 | missense variant | G/T | snv | 2.2E-05 | 1 | ||
rs148480919 | 1.000 | 0.080 | 8 | 38429704 | synonymous variant | G/A | snv | 4.5E-04 | 1.5E-03 | 1 | |
rs934813061 | 1.000 | 0.080 | 8 | 38429803 | synonymous variant | G/C | snv | 1 | |||
rs28936702 | 1.000 | 0.080 | 3 | 57198277 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
rs28936703 | 1.000 | 0.080 | 3 | 57198246 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 | 1 | |
rs28936704 | 1.000 | 0.080 | 3 | 57198214 | missense variant | T/C | snv | 1.0E-04 | 7.7E-05 | 1 | |
rs201023639 | 1.000 | 0.080 | 20 | 5302084 | missense variant | C/G;T | snv | 4.4E-05; 6.0E-05 | 1 |