Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
rs2519093 | 0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv | 15 | |||
rs2155219 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 12 | ||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 12 | ||
rs4143094 | 0.752 | 0.240 | 10 | 8047173 | intron variant | T/G | snv | 0.70 | 9 | ||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 8 | |
rs2030519 | 0.827 | 0.200 | 3 | 188402113 | intron variant | G/A | snv | 0.61 | 7 | ||
rs7936323 | 0.882 | 0.160 | 11 | 76582714 | intergenic variant | G/A | snv | 0.44 | 6 | ||
rs7517847 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 6 | ||
rs5743618 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 6 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 6 | ||
rs7927894 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 5 | ||
rs2428494 | 0.827 | 0.160 | 6 | 31354420 | intron variant | T/A;C | snv | 5 | |||
rs1438673 | 0.882 | 0.120 | 5 | 111131801 | downstream gene variant | C/T | snv | 0.61 | 4 | ||
rs4794820 | 0.790 | 0.160 | 17 | 39933091 | intron variant | A/G;T | snv | 4 | |||
rs17294280 | 0.882 | 0.120 | 15 | 67175947 | intron variant | A/G | snv | 0.19 | 4 | ||
rs17513503 | 0.882 | 0.120 | 5 | 110810746 | intergenic variant | C/A;G | snv | 3 | |||
rs7130588 | 0.882 | 0.200 | 11 | 76559639 | regulatory region variant | A/G | snv | 0.29 | 3 | ||
rs9775039 | 0.925 | 0.120 | 9 | 6177453 | intergenic variant | G/A | snv | 0.20 | 3 | ||
rs10767664 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 3 | ||
rs7528684 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 3 | ||
rs7717955 | 0.925 | 0.200 | 5 | 35862739 | intron variant | C/T | snv | 0.23 | 3 |