Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557781252 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 33 | |||
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
rs869312824 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 14 | |||
rs869312823 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 9 | |||
rs587779388 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 5 | ||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs869025316 | 0.925 | 0.160 | 2 | 209918616 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 4 | |
rs869025317 | 0.925 | 0.160 | 2 | 209959707 | missense variant | G/C | snv | 4 | |||
rs869025318 | 0.925 | 0.160 | 2 | 209820379 | frameshift variant | A/- | delins | 4 | |||
rs869025319 | 0.925 | 0.160 | 2 | 209967586 | stop gained | T/A | snv | 4 | |||
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 45 | |||
rs372392424 | 0.882 | 0.240 | 4 | 523849 | missense variant | C/T | snv | 6.7E-05 | 7.7E-05 | 8 | |
rs150681845 | 1.000 | 0.080 | 4 | 127687772 | missense variant | G/A | snv | 2.6E-03 | 1.8E-03 | 2 | |
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs1554032789 | 0.925 | 0.160 | 5 | 37048547 | missense variant | T/A | snv | 13 | |||
rs748379243 | 0.882 | 0.200 | 5 | 60928961 | splice acceptor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs897535441 | 0.925 | 0.160 | 5 | 60887521 | splice acceptor variant | C/G;T | snv | 5 | |||
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs869312697 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 8 | |||
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs1426488816 | 0.827 | 0.160 | 9 | 26913948 | splice acceptor variant | C/T | snv | 8.0E-06 | 9 | ||
rs1135402758 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 5 | ||||
rs1057518817 | 1.000 | 0.080 | 9 | 35805944 | frameshift variant | GTGGTCCTTTC/- | del | 4 | |||
rs757744435 | 1.000 | 0.080 | 9 | 35794009 | missense variant | A/G;T | snv | 4 | |||
rs141322087 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 13 |