Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2708973 | 1.000 | 0.080 | 2 | 112906296 | intergenic variant | A/G | snv | 0.96 | 1 | ||
rs2723175 | 1.000 | 0.080 | 2 | 112910176 | upstream gene variant | G/A | snv | 0.11 | 2 | ||
rs2723176 | 0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv | 4 | |||
rs10774671 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 14 | ||
rs1049334 | 0.851 | 0.280 | 7 | 116560326 | 3 prime UTR variant | G/A;T | snv | 6 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs369560944 | 1.000 | 0.080 | X | 118543579 | synonymous variant | T/C | snv | 5.5E-06 | 9.4E-06 | 1 | |
rs76459466 | 1.000 | 0.080 | 4 | 118731451 | synonymous variant | G/T | snv | 2.4E-02 | 1.5E-02 | 1 | |
rs629367 | 0.776 | 0.200 | 11 | 122146306 | intron variant | C/A | snv | 0.88 | 11 | ||
rs1834306 | 0.776 | 0.200 | 11 | 122152479 | intron variant | A/G | snv | 0.49 | 9 | ||
rs2221903 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 12 | ||
rs12508721 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 11 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs12009 | 1.000 | 0.080 | 9 | 125235024 | 3 prime UTR variant | G/A;T | snv | 0.54 | 1 | ||
rs1140763 | 1.000 | 0.080 | 9 | 125235313 | 3 prime UTR variant | G/A;C | snv | 1 | |||
rs430397 | 0.763 | 0.240 | 9 | 125238840 | intron variant | C/T | snv | 9.1E-02 | 0.11 | 9 | |
rs11355458 | 1.000 | 0.080 | 9 | 125241510 | upstream gene variant | CC/-;C;CCC;CCCC | delins | 1 | |||
rs17840761 | 0.925 | 0.160 | 9 | 125241700 | non coding transcript exon variant | G/A | snv | 0.55 | 2 | ||
rs179008 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 14 | |
rs2280714 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 10 | ||
rs1314838108 | 0.925 | 0.160 | 9 | 130854977 | missense variant | G/A | snv | 7.0E-06 | 2 |