Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1047624774 | 1.000 | 0.120 | 1 | 203700807 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 2 | |
rs543860009 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 33 | |||
rs878854378 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 33 | |||
rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
rs11551437 | 1.000 | 0.080 | 2 | 47161833 | missense variant | G/A | snv | 3 | |||
rs915012109 | 0.925 | 0.040 | 2 | 88096710 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs868064163 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 13 | ||
rs7626962 | 0.790 | 0.080 | 3 | 38579416 | missense variant | G/A;T | snv | 1.6E-05; 5.9E-03 | 10 | ||
rs199473605 | 0.851 | 0.120 | 3 | 38560374 | missense variant | C/G;T | snv | 4.8E-05; 4.0E-06 | 7 | ||
rs199473103 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 3 | |||
rs566251672 | 1.000 | 0.120 | 3 | 38587437 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 2 | ||
rs1057518916 | 3 | 38606034 | stop gained | G/A | snv | 1 | |||||
rs554903493 | 1.000 | 0.120 | 5 | 102419940 | missense variant | G/A | snv | 8.2E-06 | 2 | ||
rs1287693879 | 1.000 | 0.120 | 6 | 38737083 | missense variant | T/C | snv | 7.0E-06 | 2 | ||
rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs121912504 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 6 | |||
rs1554430943 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 4 | |||
rs1254179611 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 3 | |||
rs762510312 | 0.925 | 0.120 | 7 | 150946956 | missense variant | G/A;C | snv | 4.8E-05; 1.2E-05 | 3 | ||
rs199473012 | 1.000 | 0.120 | 7 | 150947708 | missense variant | G/C | snv | 2.6E-05 | 4.2E-05 | 2 | |
rs587777907 | 1.000 | 0.120 | 7 | 150958319 | missense variant | T/A | snv | 2.0E-05 | 2 |