Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs148636776 | 0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 | 18 | |
rs182123615 | 0.807 | 0.200 | 9 | 5070058 | splice region variant | T/C | snv | 3.6E-04 | 1.1E-03 | 7 | |
rs80358193 | 0.882 | 0.080 | 1 | 231374041 | missense variant | G/C | snv | 3 | |||
rs62638745 | 0.882 | 0.080 | 19 | 11378051 | missense variant | T/C | snv | 6.3E-03 | 6.2E-03 | 3 | |
rs41316003 | 1.000 | 0.040 | 9 | 5126343 | missense variant | G/A;C | snv | 4.4E-03 | 2 | ||
rs150221602 | 1.000 | 0.040 | 9 | 5081828 | missense variant | G/C | snv | 4.2E-04 | 5.4E-04 | 2 | |
rs202080221 | 0.925 | 0.040 | 12 | 111418767 | stop gained | G/C;T | snv | 1.1E-03 | 2 | ||
rs121917830 | 1.000 | 0.040 | 19 | 11378195 | stop gained | C/A;T | snv | 1 | |||
rs121917831 | 1.000 | 0.040 | 19 | 11378233 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||
rs121918116 | 1.000 | 0.040 | 19 | 11378194 | stop gained | C/T | snv | 1 | |||
rs1555716041 | 1.000 | 0.040 | 19 | 11378206 | frameshift variant | AGCTGGG/- | delins | 1 | |||
rs1555716045 | 1.000 | 0.040 | 19 | 11378222 | frameshift variant | -/C | delins | 1 | |||
rs1555716047 | 1.000 | 0.040 | 19 | 11378229 | frameshift variant | -/A | delins | 1 |