Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
rs387907141 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 24 | |||
rs797045283 | 0.827 | 0.320 | 6 | 157207109 | stop gained | C/T | snv | 11 | |||
rs876657380 | 0.851 | 0.360 | 6 | 157181155 | frameshift variant | AA/- | delins | 11 | |||
rs869312697 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 8 | |||
rs879253745 | 0.925 | 0.240 | 6 | 157181040 | frameshift variant | AA/- | delins | 6 | |||
rs879253856 | 0.925 | 0.240 | 6 | 157110496 | frameshift variant | CCG/TCCGCAGCCACTCC | delins | 6 | |||
rs879253747 | 0.925 | 0.240 | 6 | 157167101 | stop gained | C/T | snv | 6 | |||
rs879253746 | 0.925 | 0.240 | 6 | 157200866 | frameshift variant | -/T | delins | 6 | |||
rs1057518918 | 0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins | 6 | |||
rs1554236040 | 0.882 | 0.320 | 6 | 157201464 | stop gained | C/T | snv | 5 | |||
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 | |||
rs886040958 | 1.000 | 0.280 | 6 | 157207395 | frameshift variant | CC/- | delins | 4 | |||
rs1554236054 | 1.000 | 6 | 157201481 | frameshift variant | -/G | delins | 3 | ||||
rs869312712 | 0.925 | 0.360 | 6 | 157084866 | stop gained | C/T | snv | 3 | |||
rs1554256703 | 0.925 | 0.280 | 6 | 156829302 | stop gained | C/T | snv | 3 | |||
rs1554237658 | 0.925 | 0.280 | 6 | 157206917 | stop gained | C/T | snv | 3 | |||
rs1554234424 | 1.000 | 6 | 157196295 | stop gained | T/A | snv | 2 | ||||
rs797045282 | 1.000 | 0.280 | 6 | 157206545 | stop gained | C/T | snv | 2 | |||
rs1554247637 | 1.000 | 6 | 156778646 | frameshift variant | TGCGAGCGGCGGCC/G | delins | 2 | ||||
rs758570139 | 1.000 | 6 | 157181016 | stop gained | C/G;T | snv | 2.8E-05 | 2 | |||
rs1554237848 | 1.000 | 6 | 157207180 | stop gained | G/A | snv | 2 | ||||
rs1554226131 | 1.000 | 6 | 157148899 | frameshift variant | -/A | delins | 2 | ||||
rs1562354784 | 0.925 | 0.280 | 6 | 157207612 | frameshift variant | A/- | delins | 2 |