Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs748369265 | 2 | 178601788 | splice acceptor variant | C/T | snv | 9.3E-05 | 1.4E-05 | 1 | |||
rs779996703 | 2 | 178567141 | stop gained | G/A;T | snv | 8.9E-05 | 1 | ||||
rs557312035 | 0.925 | 0.160 | 2 | 178564811 | stop gained | G/A;C;T | snv | 8.1E-06 | 3 | ||
rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
rs58596362 | 0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 | 4 | ||
rs869312081 | 2 | 178552997 | frameshift variant | ATTA/- | delins | 8.1E-06 | 1 | ||||
rs727504589 | 2 | 178620714 | splice donor variant | C/A;T | snv | 8.1E-06; 4.0E-06 | 1 | ||||
rs764243269 | 2 | 178587708 | stop gained | G/A;T | snv | 8.1E-06; 4.0E-06 | 1 | ||||
rs770767998 | 2 | 178629441 | stop gained | G/A;C;T | snv | 8.1E-06 | 1 | ||||
rs140743001 | 1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 | 2 | |
rs768079285 | 1.000 | 0.080 | 10 | 20840824 | frameshift variant | T/- | delins | 8.0E-06 | 2 | ||
rs727505284 | 0.925 | 0.160 | 2 | 178565416 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
rs869312085 | 2 | 178539559 | stop gained | G/A | snv | 8.0E-06 | 1 | ||||
rs397515939 | 11 | 47339758 | missense variant | G/A;C | snv | 8.0E-06 | 1 | ||||
rs758537946 | 18 | 31531044 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |||
rs756433029 | 2 | 178777235 | frameshift variant | TTTCA/- | delins | 8.0E-06 | 1.4E-05 | 1 | |||
rs397516943 | 0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 | 4 | ||
rs137854618 | 0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 | 5 | ||
rs387906875 | 0.925 | 0.080 | 10 | 119670037 | stop gained | C/T | snv | 8.0E-06 | 3 | ||
rs397517906 | 0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
rs397516142 | 1.000 | 0.080 | 14 | 23425357 | missense variant | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 3 | ||
rs760187215 | 1.000 | 0.040 | 14 | 23431859 | missense variant | C/T | snv | 8.0E-06 | 6 | ||
rs730881097 | 1 | 201363352 | missense variant | C/A | snv | 8.0E-06 | 2.1E-05 | 1 | |||
rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 |