Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1239681664 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 15 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
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 | |||
rs62527607 | 0.827 | 0.160 | 8 | 103141321 | non coding transcript exon variant | G/T | snv | 0.14 | 5 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs8073069 | 0.807 | 0.200 | 17 | 78213692 | upstream gene variant | G/C | snv | 0.33 | 7 | ||
rs2239633 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 12 | ||
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 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs3745274 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 30 | ||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs1057519766 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 5 | |||
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 | ||
rs797045145 | 0.807 | 0.240 | 6 | 26091479 | stop gained | G/A | snv | 6 | |||
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 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 |