Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs775387828 | 0.851 | 0.200 | 12 | 54293083 | missense variant | G/A | snv | 2.2E-05 | 7.0E-06 | 7 | |
rs1267580705 | 0.925 | 0.240 | 2 | 46360680 | missense variant | G/A | snv | 4 | |||
rs1188254133 | 0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 | 4 | ||
rs77724903 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 23 | ||
rs148935214 | 0.882 | 0.240 | 10 | 43114546 | missense variant | C/T | snv | 3.2E-04 | 3.8E-04 | 3 | |
rs1271401320 | 1.000 | 0.120 | 9 | 21440749 | missense variant | A/G | snv | 3 | |||
rs1368606697 | 1.000 | 0.120 | 1 | 161356763 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1559430011 | 1.000 | 0.120 | 3 | 10149965 | stop lost | A/G;T | snv | 1 | |||
rs869025668 | 0.882 | 0.240 | 3 | 10149964 | stop lost | G/T | snv | 3 | |||
rs774380450 | 1.000 | 0.120 | 3 | 10149951 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 1 | |
rs28940298 | 0.776 | 0.280 | 3 | 10149921 | missense variant | C/T | snv | 2.1E-04 | 1.0E-04 | 9 | |
rs869025667 | 0.827 | 0.200 | 3 | 10149916 | missense variant | T/C | snv | 6 | |||
rs281860296 | 1.000 | 0.120 | 3 | 10149909 | stop gained | A/G;T | snv | 1 | |||
rs1553620362 | 1.000 | 0.120 | 3 | 10149907 | frameshift variant | GA/- | delins | 1 | |||
rs869025666 | 1.000 | 0.120 | 3 | 10149906 | frameshift variant | -/AAGA | delins | 1 | |||
rs1559429829 | 1.000 | 0.120 | 3 | 10149887 | frameshift variant | G/- | delins | 1 | |||
rs1559429824 | 1.000 | 0.120 | 3 | 10149886 | missense variant | T/A;C | snv | 1 | |||
rs5030824 | 0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 | 9 | |
rs367545984 | 1.000 | 0.120 | 3 | 10149879 | stop gained | G/A;T | snv | 1.6E-05 | 1 | ||
rs864622109 | 1.000 | 0.120 | 3 | 10149878 | stop gained | C/G;T | snv | 2 | |||
rs1064793878 | 1.000 | 0.120 | 3 | 10149874 | missense variant | T/C | snv | 1 | |||
rs5030823 | 0.851 | 0.280 | 3 | 10149871 | stop gained | C/A;G;T | snv | 4.0E-06 | 4 | ||
rs1559429778 | 1.000 | 0.120 | 3 | 10149870 | frameshift variant | T/- | del | 1 | |||
rs869025664 | 0.925 | 0.160 | 3 | 10149863 | frameshift variant | CGTC/- | del | 2 | |||
rs377715747 | 1.000 | 0.120 | 3 | 10149861 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 1 |