Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057517972 | 1.000 | 0.120 | 15 | 80153055 | start lost | A/G | snv | 8.0E-06 | 1 | ||
rs1057516934 | 1.000 | 0.120 | 15 | 80153056 | start lost | T/A | snv | 1 | |||
rs1057517341 | 1.000 | 0.120 | 15 | 80153066 | frameshift variant | C/- | delins | 1 | |||
rs121965073 | 1.000 | 0.120 | 15 | 80153101 | missense variant | A/G;T | snv | 8.0E-06; 2.8E-05 | 1 | ||
rs772895065 | 1.000 | 0.120 | 15 | 80153137 | splice donor variant | T/A;C | snv | 1.2E-05 | 1 | ||
rs1247460110 | 1.000 | 0.120 | 15 | 80158059 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs80338894 | 1.000 | 0.120 | 15 | 80158170 | missense variant | G/A;T | snv | 4.0E-06; 6.4E-05 | 1 | ||
rs786204683 | 1.000 | 0.120 | 15 | 80158171 | splice donor variant | G/T | snv | 1 | |||
rs1555440522 | 1.000 | 0.120 | 15 | 80159754 | splice acceptor variant | A/G | snv | 1 | |||
rs1057516408 | 1.000 | 0.120 | 15 | 80159878 | splice donor variant | G/A | snv | 4.0E-06 | 1 | ||
rs1555440603 | 1.000 | 0.120 | 15 | 80160408 | splice acceptor variant | A/G | snv | 1 | |||
rs121965074 | 0.882 | 0.120 | 15 | 80162282 | missense variant | C/A | snv | 4.0E-06 | 1 | ||
rs779642226 | 1.000 | 0.120 | 15 | 80162319 | frameshift variant | T/- | del | 1.4E-05 | 1 | ||
rs1057516679 | 1.000 | 0.120 | 15 | 80162336 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||
rs1555441251 | 1.000 | 0.120 | 15 | 80168050 | splice acceptor variant | A/G | snv | 1 | |||
rs370686447 | 1.000 | 0.120 | 15 | 80168052 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 1 | ||
rs1057516684 | 1.000 | 0.120 | 15 | 80168056 | frameshift variant | ACTTACCAGTGGGCTACCATGGCCGTGCCTC/- | delins | 1 | |||
rs1057517113 | 1.000 | 0.120 | 15 | 80168087 | frameshift variant | C/- | delins | 1 | |||
rs778387055 | 1.000 | 0.120 | 15 | 80168093 | missense variant | T/G | snv | 4.0E-06 | 1 | ||
rs781496816 | 1.000 | 0.120 | 15 | 80168116 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs1555441272 | 1.000 | 0.120 | 15 | 80168149 | splice donor variant | TG/- | delins | 1 | |||
rs80338895 | 1.000 | 0.120 | 15 | 80168263 | splice acceptor variant | G/C;T | snv | 1.5E-04 | 1 | ||
rs771712041 | 1.000 | 0.120 | 15 | 80172148 | splice acceptor variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs1057517084 | 1.000 | 0.120 | 15 | 80172151 | frameshift variant | T/-;TT | delins | 1 | |||
rs754196530 | 1.000 | 0.120 | 15 | 80172162 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 1 |