Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555928716 | 0.925 | X | 20167669 | stop gained | G/A | snv | 7 | ||||
rs113331868 | 5 | 150228191 | splice donor variant | C/A;T | snv | 6 | |||||
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs1562931936 | 1.000 | 7 | 105107527 | stop gained | C/T | snv | 5 | ||||
rs1554639173 | 1.000 | 9 | 14120609 | frameshift variant | TTCGAGTTGAGATG/- | delins | 3 | ||||
rs1554649366 | 1.000 | 9 | 14150191 | frameshift variant | -/CA | delins | 3 | ||||
rs1554709654 | 1.000 | 9 | 14307156 | missense variant | A/G | snv | 3 | ||||
rs1554709662 | 1.000 | 9 | 14307175 | missense variant | T/C | snv | 3 | ||||
rs1554709683 | 1.000 | 9 | 14307210 | missense variant | T/G | snv | 3 | ||||
rs1554709792 | 1.000 | 9 | 14307442 | stop gained | G/A | snv | 3 | ||||
rs730882244 | 1.000 | 14 | 35077175 | frameshift variant | -/A | delins | 3 | ||||
rs764333096 | 1.000 | 9 | 14307286 | stop gained | G/A;T | snv | 2.0E-05 | 3 | |||
rs786204927 | 10 | 87933036 | missense variant | C/A;G | snv | 3 | |||||
rs869312669 | 1.000 | 12 | 13571922 | missense variant | T/G | snv | 2 | ||||
rs146838322 | 1 | 39854058 | missense variant | A/G | snv | 1.2E-05 | 1 | ||||
rs1557739557 | 1 | 11114402 | missense variant | C/T | snv | 1 | |||||
rs926027867 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 12 | |||
rs1555619420 | 1.000 | 0.040 | 17 | 31265331 | frameshift variant | -/G | delins | 3 | |||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs1064795760 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 14 | |||
rs1344172059 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 12 | ||
rs1554317931 | 0.851 | 0.080 | 7 | 42045460 | frameshift variant | G/- | delins | 11 | |||
rs1085308039 | 0.925 | 0.080 | 10 | 87933075 | stop gained | G/T | snv | 6 | |||
rs786202918 | 0.925 | 0.080 | 10 | 87957951 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs1085308053 | 0.882 | 0.080 | 10 | 87952230 | missense variant | C/T | snv | 5 |