Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs779795819 | 0.925 | 0.080 | 3 | 37048526 | frameshift variant | -/ATTG | delins | 4.0E-06 | 2 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1205454520 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 10 | ||
rs712 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 24 | ||
rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 18 | ||
rs719725 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 7 | ||
rs11721827 | 0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 | 4 | ||
rs4147536 | 0.925 | 0.080 | 4 | 99317955 | non coding transcript exon variant | A/C | snv | 0.71 | 2 | ||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs5273 | 0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 | 6 | |
rs9365723 | 0.827 | 0.080 | 6 | 158014540 | intron variant | A/C;G | snv | 0.56 | 5 | ||
rs1017621656 | 0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 | 3 | ||
rs11986055 | 0.882 | 0.080 | 8 | 42277660 | intron variant | A/C;G | snv | 3 | |||
rs11832059 | 0.925 | 0.080 | 12 | 47879066 | missense variant | A/C;G | snv | 4.0E-06; 1.9E-03 | 2 | ||
rs3744400 | 0.925 | 0.080 | 17 | 7260404 | synonymous variant | A/C;G | snv | 4.1E-02; 8.0E-06; 4.0E-06 | 2.4E-02 | 2 | |
rs730881756 | 0.925 | 0.080 | 2 | 47445653 | missense variant | A/C;G | snv | 4.0E-06 | 2 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 32 | |||
rs1799977 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 28 | ||
rs629849 | 0.827 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 | 9 | |
rs9869263 | 0.925 | 0.080 | 3 | 190312891 | synonymous variant | A/C;G;T | snv | 8.0E-06; 0.83; 4.0E-06 | 3 | ||
rs3811802 | 0.925 | 0.080 | 4 | 99323064 | intron variant | A/C;G;T | snv | 2 | |||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 |