Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12948783 | 17 | 76503318 | upstream gene variant | G/A;C;T | snv | 1 | |||||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs11988795 | 8 | 72037366 | intron variant | C/G;T | snv | 1 | |||||
rs200192163 | 8 | 72036453 | missense variant | C/A;G | snv | 1.6E-05 | 1 | ||||
rs1057518946 | 0.882 | 0.080 | X | 71223816 | missense variant | G/T | snv | 8 | |||
rs765502022 | 0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 | 8 | ||
rs773030005 | 1.000 | 0.040 | 4 | 69107204 | synonymous variant | A/C;G | snv | 4.0E-06; 6.8E-05 | 2 | ||
rs7439366 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 16 | |
rs749415280 | 1.000 | 0.120 | 4 | 69096638 | missense variant | A/G | snv | 2 | |||
rs4587017 | 4 | 69081680 | intron variant | T/G | snv | 0.63 | 1 | ||||
rs2069705 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 19 | |||
rs2069718 | 0.742 | 0.320 | 12 | 68156382 | intron variant | A/G;T | snv | 0.50 | 14 | ||
rs1815739 | 0.763 | 0.240 | 11 | 66560624 | stop gained | C/T | snv | 0.37 | 17 | ||
rs121908552 | 0.763 | 0.160 | 17 | 63964587 | missense variant | C/A;G;T | snv | 4.0E-06 | 14 | ||
rs6295 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 40 | ||
rs80338958 | 0.790 | 0.200 | 17 | 63945614 | missense variant | C/A;T | snv | 1.6E-05; 5.6E-05 | 9 | ||
rs1044396 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 17 | ||
rs1044397 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 7 | |
rs10877969 | 0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 | 6 | ||
rs74315431 | 0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 | 15 | ||
rs2653349 | 0.882 | 0.120 | 6 | 55277539 | missense variant | A/G;T | snv | 0.84; 4.0E-06 | 5 | ||
rs8007267 | 0.882 | 0.200 | 14 | 54912273 | intergenic variant | C/T | snv | 0.31 | 6 | ||
rs10483639 | 1.000 | 0.040 | 14 | 54839739 | downstream gene variant | G/C | snv | 0.26 | 3 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs1051660 | 1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 | 3 |