Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs377274761 | 0.776 | 0.240 | 14 | 87968393 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 20 | |
rs1566974586 | 1.000 | 0.120 | 14 | 87947823 | missense variant | G/A | snv | 3 | |||
rs1555384318 | 0.925 | 0.120 | 14 | 87992971 | missense variant | C/T | snv | 2 | |||
rs374635469 | 0.925 | 0.120 | 14 | 87986543 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs557464603 | 0.925 | 0.120 | 14 | 87945604 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 2 | |
rs776857280 | 0.925 | 0.120 | 14 | 87945599 | missense variant | C/G | snv | 2 | |||
rs1009872980 | 1.000 | 0.120 | 14 | 87992969 | splice donor variant | C/A;G;T | snv | 1 | |||
rs1057516270 | 1.000 | 0.120 | 14 | 87963480 | stop gained | C/T | snv | 1 | |||
rs1057516394 | 1.000 | 0.120 | 14 | 87949910 | frameshift variant | C/-;CC | delins | 7.0E-06 | 1 | ||
rs1057516433 | 1.000 | 0.120 | 14 | 87939965 | frameshift variant | A/- | del | 1 | |||
rs1057516453 | 1.000 | 0.120 | 14 | 87939926 | stop gained | A/T | snv | 4.0E-06 | 1 | ||
rs1057516469 | 1.000 | 0.120 | 14 | 87965526 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||
rs1057516632 | 1.000 | 0.120 | 14 | 87986487 | splice donor variant | A/C | snv | 1 | |||
rs1057516642 | 1.000 | 0.120 | 14 | 87965586 | missense variant | G/C | snv | 1 | |||
rs1057516673 | 1.000 | 0.120 | 14 | 87986516 | stop gained | T/A;C | snv | 1 | |||
rs1057516808 | 1.000 | 0.120 | 14 | 87965566 | frameshift variant | C/- | del | 1 | |||
rs1057516816 | 1.000 | 0.120 | 14 | 87993036 | stop gained | G/A;C;T | snv | 1 | |||
rs1057517033 | 1.000 | 0.120 | 14 | 87939979 | stop gained | C/A | snv | 1 | |||
rs1057517082 | 1.000 | 0.120 | 14 | 87947790 | frameshift variant | -/T | delins | 4.0E-06 | 1 | ||
rs1057517185 | 1.000 | 0.120 | 14 | 87984507 | frameshift variant | -/CC | delins | 1 | |||
rs1057517187 | 1.000 | 0.120 | 14 | 87992961 | splice donor variant | CACCCCGCCGCCGCT/- | delins | 1 | |||
rs1057517372 | 1.000 | 0.120 | 14 | 87949910 | stop gained | -/ACT | delins | 1 | |||
rs1057517382 | 1.000 | 0.120 | 14 | 87965517 | frameshift variant | C/- | del | 1 | |||
rs1064793131 | 1.000 | 0.120 | 14 | 87993010 | frameshift variant | C/- | delins | 1 | |||
rs11623 | 1.000 | 0.120 | 14 | 87992996 | missense variant | C/A;G;T | snv | 1 |