Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397517065 | 15 | 34792471 | missense variant | G/A | snv | 2 | |||||
rs397517071 | 1.000 | 0.040 | 15 | 34792092 | missense variant | A/G | snv | 2 | |||
rs727504379 | 1.000 | 0.040 | 15 | 34791238 | missense variant | A/G | snv | 2 | |||
rs727502886 | 0.925 | 0.040 | 1 | 236719007 | missense variant | G/A | snv | 3 | |||
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 42 | ||
rs869248137 | 0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 | 4 | ||
rs387906875 | 0.925 | 0.080 | 10 | 119670037 | stop gained | C/T | snv | 8.0E-06 | 3 | ||
rs397516881 | 0.827 | 0.120 | 10 | 119676917 | missense variant | G/A | snv | 3 | |||
rs876657634 | 0.925 | 0.080 | 10 | 119672477 | stop gained | C/T | snv | 3 | |||
rs727505109 | 1.000 | 10 | 119676617 | frameshift variant | C/- | delins | 2 | ||||
rs1554875409 | 10 | 119651752 | stop gained | G/A | snv | 1 | |||||
rs1564773559 | 10 | 119669920 | frameshift variant | -/TGTGTAC | delins | 1 | |||||
rs727502897 | 10 | 119651742 | frameshift variant | C/-;CC | delins | 1 | |||||
rs727505283 | 10 | 119651774 | frameshift variant | ACCGGCTG/- | delins | 1 | |||||
rs730880055 | 10 | 119676851 | stop gained | C/T | snv | 1 | |||||
rs869025365 | 10 | 119672657 | splice donor variant | G/A | snv | 1 | |||||
rs397516784 | 0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 | 4 | ||
rs1565050320 | 11 | 19185040 | missense variant | C/G | snv | 1 | |||||
rs1565053085 | 11 | 19192353 | synonymous variant | C/T | snv | 1 | |||||
rs1565053147 | 11 | 19192403 | missense variant | T/A | snv | 1 | |||||
rs876657767 | 11 | 19186276 | missense variant | C/G;T | snv | 1 | |||||
rs267607490 | 0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv | 4 | |||
rs150974575 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 3 | ||
rs267607483 | 1.000 | 0.160 | 2 | 219420349 | splice region variant | A/G;T | snv | 2 | |||
rs267607495 | 2 | 219418497 | missense variant | C/T | snv | 2 |