Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs398123527 | 0.827 | 0.120 | 1 | 155236298 | missense variant | C/G | snv | 5 | |||
rs1237637353 | 0.925 | 0.120 | 1 | 155237579 | splice acceptor variant | C/G | snv | 4.0E-06 | 2 | ||
rs1553217294 | 0.925 | 0.120 | 1 | 155236417 | missense variant | C/G | snv | 2 | |||
rs79653797 | 0.851 | 0.120 | 1 | 155238629 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 4 | ||
rs147138516 | 0.925 | 0.120 | 1 | 155238570 | missense variant | C/G;T | snv | 1.4E-04; 4.0E-06 | 2 | ||
rs398123526 | 0.925 | 0.120 | 1 | 155236409 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 2 | ||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 18 | |
rs75822236 | 0.752 | 0.200 | 1 | 155235002 | missense variant | C/T | snv | 1.8E-04 | 6.1E-05 | 10 | |
rs80356772 | 0.790 | 0.160 | 1 | 155235195 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 9 | |
rs78973108 | 0.776 | 0.160 | 1 | 155237453 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 | 8 | |
rs121908311 | 0.827 | 0.120 | 1 | 155235823 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs409652 | 0.827 | 0.120 | 1 | 155238174 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 5 | |
rs1553217009 | 0.882 | 0.120 | 1 | 155235757 | missense variant | C/T | snv | 3 | |||
rs2297950 | 0.882 | 0.200 | 1 | 203225058 | missense variant | C/T | snv | 0.31 | 0.30 | 3 | |
rs1161552095 | 0.925 | 0.120 | 1 | 155236307 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs77829017 | 0.925 | 0.120 | 1 | 155239939 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs78769774 | 0.925 | 0.120 | 1 | 155239933 | missense variant | C/T | snv | 2 | |||
rs1425743194 | 1.000 | 0.120 | 9 | 131144316 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs754743440 | 1.000 | 0.120 | 1 | 155235819 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs756858487 | 1.000 | 0.120 | 1 | 155235214 | missense variant | C/T | snv | 2.0E-05 | 1 | ||
rs867929413 | 1.000 | 0.120 | 1 | 155238242 | stop gained | C/T | snv | 1 | |||
rs1366567865 | 1.000 | 0.120 | 1 | 155237426 | frameshift variant | G/- | delins | 1 | |||
rs1553217879 | 1.000 | 0.120 | 1 | 155238265 | frameshift variant | G/- | delins | 1 | |||
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 |