Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1494555 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 8 | |
rs387906350 | 0.882 | 0.120 | 1 | 85267830 | frameshift variant | A/-;AA | delins | 3 | |||
rs587776630 | 1.000 | 0.120 | 1 | 85270800 | frameshift variant | -/T | delins | 1 | |||
rs587776631 | 1.000 | 0.120 | 1 | 85270619 | frameshift variant | T/- | delins | 1 | |||
rs928883 | 0.882 | 0.160 | 21 | 25571713 | intron variant | A/G | snv | 0.83 | 3 | ||
rs11797 | 0.925 | 0.160 | 3 | 48467186 | synonymous variant | T/C | snv | 0.63 | 2 | ||
rs61756766 | 0.776 | 0.320 | 22 | 41925447 | missense variant | G/A | snv | 5.7E-03 | 5.7E-03 | 9 | |
rs9808753 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 17 | |
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs568408 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 29 | ||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 |