Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057517809 | 0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv | 4 | |||
rs1057519942 | 0.724 | 0.320 | 3 | 179203760 | missense variant | G/A | snv | 15 | |||
rs1060500122 | 1.000 | 0.080 | 10 | 87933204 | stop gained | C/T | snv | 2 | |||
rs1060500126 | 0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv | 8 | |||
rs1060503757 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 5 | |||
rs1064793243 | 1.000 | 0.080 | 10 | 87933082 | missense variant | T/C | snv | 2 | |||
rs1064793345 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 10 | |||
rs1064793732 | 0.882 | 0.320 | 3 | 179204536 | missense variant | G/A | snv | 2 | |||
rs1085308041 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 12 | |||
rs1085308043 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 12 | |||
rs1085308048 | 0.851 | 0.320 | 10 | 87933175 | stop gained | T/G | snv | 4 | |||
rs1114167621 | 0.790 | 0.160 | 10 | 87931045 | splice acceptor variant | G/A;C;T | snv | 8 | |||
rs1114167622 | 0.790 | 0.160 | 10 | 87952260 | splice donor variant | G/C | snv | 8 | |||
rs1114167624 | 1.000 | 0.080 | 10 | 87961120 | splice donor variant | T/C;G | snv | 2 | |||
rs1114167640 | 0.790 | 0.160 | 10 | 87961067 | stop gained | TGACAAAGCAAATA/CGCTT | delins | 8 | |||
rs1114167650 | 0.790 | 0.160 | 10 | 87925562 | splice region variant | G/A | snv | 8 | |||
rs121909218 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 14 | |||
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 24 | |||
rs121909221 | 0.790 | 0.160 | 10 | 87952135 | missense variant | T/A | snv | 7 | |||
rs121909222 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 7 | |||
rs121909223 | 0.790 | 0.160 | 10 | 87933129 | missense variant | T/C;G | snv | 8 | |||
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 35 | ||
rs121909225 | 0.790 | 0.160 | 10 | 87894049 | missense variant | T/C;G | snv | 8 | |||
rs121909226 | 0.790 | 0.160 | 10 | 87925557 | missense variant | T/C | snv | 7 | |||
rs121909227 | 0.776 | 0.240 | 10 | 87957858 | stop gained | C/T | snv | 8 |