Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 73 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 27 | ||
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 26 | ||
rs1728918 | 0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv | 19 | |||
rs4506565 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 19 | |||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 19 | |||
rs478442 | 0.851 | 0.120 | 2 | 21176344 | intergenic variant | G/C;T | snv | 18 | |||
rs765547 | 0.827 | 0.160 | 8 | 20008763 | intergenic variant | G/A;C;T | snv | 18 | |||
rs13114738 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 16 | |||
rs4704221 | 0.851 | 0.120 | 5 | 75463358 | intron variant | T/A;C | snv | 16 | |||
rs4905014 | 0.851 | 0.120 | 14 | 92945686 | intron variant | G/A;C | snv | 16 | |||
rs7115242 | 0.851 | 0.120 | 11 | 117037567 | intron variant | A/G;T | snv | 16 | |||
rs11575937 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 14 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 12 | ||
rs1169288 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 11 | ||
rs1057515576 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 9 | |||
rs11206510 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 8 | |||
rs550057 | 0.925 | 0.080 | 9 | 133271182 | intron variant | T/A;C | snv | 8 | |||
rs13266634 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 7 | ||
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 7 | |||
rs460976 | 0.851 | 0.120 | 21 | 41463567 | downstream gene variant | A/G;T | snv | 7 | |||
rs7081476 | 0.851 | 0.120 | 10 | 26969741 | intergenic variant | G/C;T | snv | 7 | |||
rs886040857 | 0.882 | 0.240 | X | 24076757 | frameshift variant | TCAA/- | delins | 7 | |||
rs1057518903 | 0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins | 6 | |||
rs11547328 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 6 |