Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs114925667 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 62 | ||
rs780533096 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 44 | ||
rs397514698 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 41 | |||
rs653178 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 36 | ||
rs13107325 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 30 | ||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 28 | ||
rs374052333 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 27 | ||
rs759191907 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 25 | ||
rs495828 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 18 | ||
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs7725052 | 0.716 | 0.240 | 5 | 40487168 | intron variant | C/T | snv | 0.52 | 16 | ||
rs36051895 | 0.716 | 0.240 | 9 | 4981866 | upstream gene variant | G/T | snv | 0.25 | 15 | ||
rs2155219 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 12 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 12 | ||
rs387906760 | 0.790 | 0.200 | 2 | 190995184 | missense variant | C/T | snv | 12 | |||
rs1555483699 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 10 | |||
rs3918226 | 0.925 | 0.080 | 7 | 150993088 | intron variant | C/T | snv | 5.7E-02 | 10 | ||
rs4845604 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 10 | |||
rs61839660 | 0.776 | 0.280 | 10 | 6052734 | intron variant | C/T | snv | 5.7E-02 | 9 | ||
rs6894249 | 0.776 | 0.160 | 5 | 132461855 | non coding transcript exon variant | A/G | snv | 0.45 | 9 | ||
rs112401631 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 8 | ||
rs1837253 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 8 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 8 | |
rs34290285 | 0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 | 8 | ||
rs558269137 | 0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 | 8 |