Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1000091588 | 1.000 | 0.120 | 11 | 68935374 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
rs1001570418 | 1.000 | 0.080 | 15 | 89325609 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1002088882 | 0.925 | 0.200 | 16 | 16219834 | stop gained | C/T | snv | 7.1E-06 | 4 | ||
rs1002571805 | 1.000 | 0.160 | 1 | 45508837 | stop gained | G/A;C | snv | 1 | |||
rs1003442806 | 1.000 | 0.080 | 15 | 89322875 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs1003869920 | 0.925 | 0.080 | 1 | 215674335 | stop gained | G/A | snv | 7.0E-06 | 2 | ||
rs1004027979 | 1.000 | 0.080 | 3 | 15644951 | frameshift variant | -/TC | delins | 2.8E-05 | 1 | ||
rs1004492719 | 1.000 | 0.120 | 9 | 130466762 | frameshift variant | TTCAAGGG/- | delins | 1 | |||
rs1005389790 | 1.000 | 2 | 227101899 | missense variant | C/A;T | snv | 1 | ||||
rs1005542482 | 1.000 | 0.120 | 6 | 80106694 | start lost | A/G;T | snv | 1.3E-05 | 1.4E-05 | 1 | |
rs1006060877 | 1.000 | 0.080 | 13 | 23354743 | frameshift variant | C/- | del | 1.4E-05 | 1 | ||
rs1006150317 | 1.000 | 0.120 | 19 | 12891875 | stop gained | G/T | snv | 1 | |||
rs1006246556 | 1.000 | 0.040 | 2 | 202556253 | missense variant | G/A;T | snv | 1 | |||
rs10065172 | 0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 | 1 | |
rs1006839535 | 1.000 | 0.200 | 4 | 78526552 | stop gained | C/G | snv | 1 | |||
rs1006898944 | 19 | 36099453 | stop gained | C/T | snv | 1 | |||||
rs1006906224 | 1.000 | 0.040 | 5 | 177211437 | stop gained | C/G;T | snv | 1 | |||
rs1006935198 | 0.882 | 0.080 | 17 | 8015048 | stop gained | C/G | snv | 3 | |||
rs1006994885 | 1.000 | 0.160 | 16 | 16150577 | splice donor variant | C/A;G | snv | 5 | |||
rs1007338250 | 1.000 | 0.120 | 5 | 74685558 | stop gained | C/G;T | snv | 1 | |||
rs1007345781 | 3 | 180616604 | frameshift variant | GT/- | delins | 8.7E-06 | 2.8E-05 | 1 | |||
rs1007534611 | 1.000 | 0.120 | 4 | 5809612 | splice donor variant | G/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs1007812513 | 1.000 | 6 | 43622692 | stop gained | G/A | snv | 1 | ||||
rs1008088032 | 1.000 | 10 | 132785151 | missense variant | C/G;T | snv | 4.1E-06 | 1 | |||
rs1008240677 | 1.000 | 0.120 | 8 | 63086009 | stop gained | G/A | snv | 1 |