Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1057517840 | 0.925 | 0.200 | 17 | 7674904 | frameshift variant | CT/- | delins | 3 | |||
rs1057517983 | 1.000 | 0.120 | 17 | 7674232 | missense variant | C/A;G;T | snv | 1 | |||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 22 | |||
rs1057519985 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 16 | |||
rs1057519986 | 0.776 | 0.240 | 17 | 7673811 | missense variant | A/C;G | snv | 10 | |||
rs1057519989 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 17 | |||
rs1057519992 | 0.742 | 0.400 | 17 | 7674890 | missense variant | T/A;C;G | snv | 14 | |||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 21 | |||
rs1057523347 | 0.925 | 0.160 | 17 | 7673789 | stop gained | A/G;T | snv | 2 | |||
rs1060501194 | 1.000 | 0.120 | 17 | 7673830 | frameshift variant | G/- | del | 1 | |||
rs1060501197 | 1.000 | 0.120 | 17 | 7674247 | frameshift variant | T/- | delins | 1 | |||
rs1060501207 | 1.000 | 0.120 | 17 | 7673839 | splice acceptor variant | T/C | snv | 1 | |||
rs1060501212 | 1.000 | 0.120 | 17 | 7674973 | splice acceptor variant | TAA/- | del | 1 | |||
rs1064792930 | 1.000 | 0.120 | 17 | 7675152 | frameshift variant | CGGGCGGGGGTGT/- | del | 1 | |||
rs1064794309 | 1.000 | 0.120 | 17 | 7674197 | inframe deletion | ATG/- | delins | 1 | |||
rs1064795203 | 1.000 | 0.120 | 17 | 7675080 | missense variant | G/C;T | snv | 2 | |||
rs112431538 | 1.000 | 0.120 | 17 | 7673767 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
rs1131691004 | 1.000 | 0.120 | 17 | 7676039 | frameshift variant | -/GAAACCG | delins | 2 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1131691016 | 0.925 | 0.240 | 17 | 7673699 | splice donor variant | A/C;T | snv | 3 | |||
rs1131691026 | 0.925 | 0.160 | 17 | 7675174 | stop gained | C/T | snv | 3 | |||
rs1131691033 | 1.000 | 0.120 | 17 | 7673534 | splice donor variant | C/- | delins | 2 | |||
rs1131691039 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 5 | |||
rs1131691043 | 1.000 | 0.120 | 17 | 7675098 | missense variant | C/A | snv | 2 |