Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs748363079 | 1.000 | 0.280 | 6 | 157198835 | stop gained | T/A;C | snv | 5.7E-05 | 1 | ||
rs377021700 | 1.000 | 0.280 | 6 | 157200734 | stop gained | C/G;T | snv | 3.2E-05 | 3.5E-05 | 1 | |
rs758570139 | 1.000 | 6 | 157181016 | stop gained | C/G;T | snv | 2.8E-05 | 2 | |||
rs753933273 | 1.000 | 0.280 | 6 | 157084773 | stop gained | C/A;T | snv | 1.6E-05 | 1 | ||
rs201653711 | 0.925 | 0.280 | 6 | 156871638 | stop gained | G/T | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs773740590 | 1.000 | 0.280 | 6 | 157196311 | stop gained | C/A;T | snv | 9.0E-06 | 7.0E-06 | 1 | |
rs1057518648 | 1.000 | 0.280 | 6 | 156777946 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
rs758120346 | 1.000 | 0.280 | 6 | 157207667 | stop gained | C/A;T | snv | 8.0E-06 | 1 | ||
rs1451259945 | 1.000 | 0.280 | 6 | 157206623 | stop gained | G/A;T | snv | 4.0E-06 | 4.2E-05 | 1 | |
rs387907143 | 1.000 | 0.280 | 6 | 157206470 | stop gained | A/C;T | snv | 4.0E-06 | 1 | ||
rs772973856 | 1.000 | 0.280 | 6 | 157190085 | stop gained | C/A;T | snv | 4.0E-06 | 7.0E-06 | 1 | |
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 |