Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1555523630 | 1.000 | 0.120 | 17 | 7668202 | intron variant | -/C | delins | 1 | |||
rs1555526470 | 1.000 | 0.120 | 17 | 7675992 | splice region variant | -/C | delins | 1 | |||
rs1555525140 | 1.000 | 0.120 | 17 | 7673749 | frameshift variant | -/G | delins | 1 | |||
rs1131691004 | 1.000 | 0.120 | 17 | 7676039 | frameshift variant | -/GAAACCG | delins | 2 | |||
rs1567552753 | 1.000 | 0.120 | 17 | 7675076 | frameshift variant | -/GGTGGGGGCAGCGCCTCAC | delins | 1 | |||
rs1555526748 | 1.000 | 0.120 | 17 | 7676212 | frameshift variant | -/T | delins | 1 | |||
rs1555526495 | 1.000 | 0.120 | 17 | 7676004 | frameshift variant | -/TTGGCTGTCCCAGAATGCAAGAAGCCCAGAC | delins | 1 | |||
rs1555526593 | 1.000 | 0.120 | 17 | 7676074 | frameshift variant | A/- | delins | 1 | |||
rs1555526997 | 1.000 | 0.120 | 17 | 7676550 | frameshift variant | A/- | del | 1 | |||
rs193920789 | 1.000 | 0.120 | 17 | 7674249 | missense variant | A/C | snv | 1 | |||
rs1057519986 | 0.776 | 0.240 | 17 | 7673811 | missense variant | A/C;G | snv | 10 | |||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 32 | |||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 22 | |||
rs876660821 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 22 | |||
rs864622237 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 17 | |||
rs1555526469 | 0.925 | 0.240 | 17 | 7675992 | splice donor variant | A/C;G;T | snv | 3 | |||
rs587780074 | 0.925 | 0.200 | 17 | 7674226 | missense variant | A/C;G;T | snv | 3 | |||
rs28934577 | 1.000 | 0.120 | 17 | 7674193 | missense variant | A/C;G;T | snv | 2 | |||
rs1131691016 | 0.925 | 0.240 | 17 | 7673699 | splice donor variant | A/C;T | snv | 3 | |||
rs879253942 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 28 | |||
rs28934873 | 0.925 | 0.120 | 17 | 7675214 | start lost | A/G | snv | 3 | |||
rs121912653 | 0.925 | 0.120 | 17 | 7674208 | missense variant | A/G | snv | 2 | |||
rs121912662 | 0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv | 2 | |||
rs1057523347 | 0.925 | 0.160 | 17 | 7673789 | stop gained | A/G;T | snv | 2 |