Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553690452 | 1.000 | 3 | 11028845 | stop gained | C/T | snv | 2 | ||||
rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs1280482569 | 1.000 | 19 | 11211990 | splice donor variant | ACC/- | delins | 7.0E-06 | 1 | |||
rs568049240 | 1.000 | 19 | 11213187 | stop gained | C/A;T | snv | 7.3E-05; 4.0E-06 | 1 | |||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 34 | |||
rs376607329 | 0.851 | 0.200 | 12 | 112472981 | missense variant | G/A;T | snv | 3.2E-05 | 3.5E-05 | 4 | |
rs397507529 | 0.851 | 0.160 | 12 | 112473031 | missense variant | A/G | snv | 7.0E-06 | 5 | ||
rs397507531 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 18 | |||
rs28933386 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 14 | |
rs397507541 | 0.827 | 0.160 | 12 | 112489068 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs397507547 | 0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 | 14 | ||
rs1553259463 | 1.000 | 1 | 113901815 | stop gained | GACAT/- | delins | 2 | ||||
rs1555721837 | 1.000 | 19 | 11423933 | stop gained | G/A | snv | 2 | ||||
rs1554829390 | 1.000 | 9 | 114307746 | stop gained | C/T | snv | 2 | ||||
rs1555379911 | 1.000 | 13 | 114325794 | stop gained | C/G | snv | 2 | ||||
rs1553794464 | 1.000 | 3 | 114350821 | frameshift variant | -/C | delins | 2 | ||||
rs1554596397 | 1.000 | 8 | 115604881 | stop gained | A/C | snv | 2 | ||||
rs1555240361 | 1.000 | 12 | 115966138 | stop gained | G/A | snv | 2 | ||||
rs1555240376 | 1.000 | 12 | 115966189 | missense variant | G/T | snv | 2 | ||||
rs1555243099 | 1.000 | 12 | 115982526 | missense variant | A/T | snv | 2 | ||||
rs1555244216 | 1.000 | 12 | 115987290 | splice acceptor variant | T/C | snv | 2 | ||||
rs1555247469 | 1.000 | 12 | 116006413 | splice acceptor variant | T/C | snv | 2 | ||||
rs1555247853 | 1.000 | 12 | 116008553 | frameshift variant | CCC/TGTTCGAG | delins | 2 | ||||
rs1555248020 | 1.000 | 12 | 116009052 | stop gained | G/C | snv | 3 | ||||
rs1555907215 | 1.000 | X | 11768608 | frameshift variant | C/- | delins | 2 |