Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs767464424 | 0.925 | 0.080 | 2 | 37222420 | frameshift variant | T/- | delins | 4.2E-06 | 3 | ||
rs777017502 | 0.925 | 0.080 | 2 | 37222420 | missense variant | T/C;G | snv | 4.2E-06; 4.2E-06 | 3 | ||
rs2230724 | 0.851 | 0.120 | 9 | 5081780 | synonymous variant | G/A | snv | 0.53 | 0.62 | 4 | |
rs751689316 | 0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 | 4 | ||
rs62527607 | 0.827 | 0.160 | 8 | 103141321 | non coding transcript exon variant | G/T | snv | 0.14 | 5 | ||
rs1057519766 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 5 | |||
rs797045145 | 0.807 | 0.240 | 6 | 26091479 | stop gained | G/A | snv | 6 | |||
rs1325757098 | 0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 6 | |
rs8073069 | 0.807 | 0.200 | 17 | 78213692 | upstream gene variant | G/C | snv | 0.33 | 7 | ||
rs111033563 | 0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 | 8 | ||
rs11978267 | 0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 | 9 | ||
rs4132601 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 9 | ||
rs1470755915 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 10 | ||
rs927698341 | 0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 | 10 | |
rs1799929 | 0.776 | 0.240 | 8 | 18400484 | synonymous variant | C/T | snv | 0.36 | 0.36 | 11 | |
rs2239633 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 12 | ||
rs35201683 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 12 | ||
rs780246573 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 12 | ||
rs1532268 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 12 | |
rs80338880 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 12 | ||
rs387906659 | 0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv | 14 | |||
rs397514606 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 14 | |||
rs1801280 | 0.716 | 0.440 | 8 | 18400344 | missense variant | T/C | snv | 0.38 | 0.39 | 14 | |
rs559063155 | 0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 | 14 | ||
rs1239681664 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 15 |