Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121965078 | 0.925 | 0.120 | 15 | 80173143 | missense variant | A/G | snv | 7.0E-06 | 2 | ||
rs1057516333 | 1.000 | 0.120 | 15 | 80186129 | splice acceptor variant | G/A | snv | 1 | |||
rs1057516631 | 1.000 | 0.120 | 15 | 80186207 | stop lost | T/C;G | snv | 1 | |||
rs1057516684 | 1.000 | 0.120 | 15 | 80168056 | frameshift variant | ACTTACCAGTGGGCTACCATGGCCGTGCCTC/- | delins | 1 | |||
rs1057516934 | 1.000 | 0.120 | 15 | 80153056 | start lost | T/A | snv | 1 | |||
rs1057517084 | 1.000 | 0.120 | 15 | 80172151 | frameshift variant | T/-;TT | delins | 1 | |||
rs1057517113 | 1.000 | 0.120 | 15 | 80168087 | frameshift variant | C/- | delins | 1 | |||
rs1057517201 | 1.000 | 0.120 | 15 | 80177584 | splice donor variant | G/A | snv | 1 | |||
rs1057517341 | 1.000 | 0.120 | 15 | 80153066 | frameshift variant | C/- | delins | 1 | |||
rs1057517436 | 1.000 | 0.120 | 15 | 80173083 | frameshift variant | TC/- | delins | 7.0E-06 | 1 | ||
rs121965077 | 1.000 | 0.120 | 15 | 80181120 | missense variant | A/G | snv | 1 | |||
rs1555440522 | 1.000 | 0.120 | 15 | 80159754 | splice acceptor variant | A/G | snv | 1 | |||
rs1555440603 | 1.000 | 0.120 | 15 | 80160408 | splice acceptor variant | A/G | snv | 1 | |||
rs1555441251 | 1.000 | 0.120 | 15 | 80168050 | splice acceptor variant | A/G | snv | 1 | |||
rs1555441272 | 1.000 | 0.120 | 15 | 80168149 | splice donor variant | TG/- | delins | 1 | |||
rs1555441595 | 1.000 | 0.120 | 15 | 80172242 | missense variant | T/G | snv | 1 | |||
rs1555441597 | 1.000 | 0.120 | 15 | 80172250 | splice donor variant | T/G | snv | 1 | |||
rs1555441703 | 1.000 | 0.120 | 15 | 80173142 | frameshift variant | C/- | del | 1 | |||
rs1555441852 | 1.000 | 0.120 | 15 | 80175022 | frameshift variant | -/TGGCCCCTGCC | delins | 1 | |||
rs1555441861 | 1.000 | 0.120 | 15 | 80175060 | frameshift variant | -/T | delins | 1 | |||
rs1555442289 | 1.000 | 0.120 | 15 | 80180122 | splice acceptor variant | A/C | snv | 1 | |||
rs1555442385 | 1.000 | 0.120 | 15 | 80181040 | splice acceptor variant | A/G | snv | 1 | |||
rs750741137 | 1.000 | 0.120 | 15 | 80173049 | frameshift variant | G/- | delins | 1 | |||
rs779642226 | 1.000 | 0.120 | 15 | 80162319 | frameshift variant | T/- | del | 1.4E-05 | 1 | ||
rs786204551 | 1.000 | 0.120 | 15 | 80186139 | frameshift variant | A/- | del | 1.4E-05 | 1 |