Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1558519119 | 0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del | 3 | |||
rs11893842 | 0.925 | 0.160 | 2 | 219572251 | intron variant | A/G | snv | 0.45 | 2 | ||
rs1057523157 | 0.925 | 0.120 | 3 | 47088172 | missense variant | G/A | snv | 3 | |||
rs1250394819 | 0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 | 9 | ||
rs1057518951 | 0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv | 5 | |||
rs797045277 | 0.882 | 0.280 | 6 | 157198907 | splice region variant | G/A | snv | 5 | |||
rs1563183469 | 0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv | 3 | |||
rs568887534 | 0.807 | 0.240 | 8 | 30183156 | missense variant | A/G | snv | 4.0E-06 | 9 | ||
rs1563406024 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 4 | |||
rs750195040 | 0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 | 12 | |
rs1057516033 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 9 | |||
rs387907252 | 0.882 | 0.160 | 10 | 117134559 | missense variant | G/T | snv | 3 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1190999960 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 9 | |||
rs121907917 | 0.807 | 0.240 | 11 | 31794079 | stop gained | G/A | snv | 6 | |||
rs148634289 | 0.827 | 0.200 | 11 | 112088925 | synonymous variant | C/T | snv | 1.6E-05 | 2.1E-05 | 6 | |
rs1064796460 | 0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv | 8 | |||
rs1555155556 | 0.851 | 0.120 | 12 | 12435627 | splice acceptor variant | G/T | snv | 6 | |||
rs797045005 | 0.851 | 0.320 | 12 | 49185140 | missense variant | A/G | snv | 4 | |||
rs1057517858 | 0.925 | 0.240 | 12 | 49185714 | missense variant | C/A;T | snv | 3 | |||
rs1565627707 | 0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv | 3 | |||
rs750610248 | 0.882 | 0.200 | 14 | 99175513 | missense variant | A/C;G | snv | 4.1E-06 | 3 | ||
rs778139192 | 0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 | 14 | ||
rs1285675735 | 0.827 | 0.200 | 15 | 45043384 | synonymous variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 6 | ||
rs1555380716 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 5 |