Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17094222 | 0.925 | 0.080 | 10 | 100635683 | intergenic variant | T/C | snv | 0.17 | 1 | ||
rs6214 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 1 | ||
rs3774937 | 0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 | 5 | ||
rs4919687 | 0.742 | 0.160 | 10 | 102835491 | non coding transcript exon variant | G/A | snv | 0.25 | 9 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 2 | |
rs4684677 | 0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 | 1 | |
rs281439 | 0.925 | 0.080 | 19 | 10289434 | upstream gene variant | G/C;T | snv | 1 | |||
rs280519 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 2 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs7907606 | 0.790 | 0.120 | 10 | 103920874 | upstream gene variant | T/G | snv | 0.26 | 5 | ||
rs1092913 | 0.925 | 0.080 | 5 | 10467590 | intron variant | G/A | snv | 0.19 | 1 | ||
rs616488 | 0.925 | 0.080 | 1 | 10506158 | intron variant | A/G | snv | 0.27 | 2 | ||
rs9790517 | 0.925 | 0.080 | 4 | 105163621 | intron variant | C/T | snv | 0.20 | 2 | ||
rs10759243 | 0.925 | 0.080 | 9 | 107543834 | upstream gene variant | C/A;T | snv | 2 | |||
rs10816625 | 0.925 | 0.080 | 9 | 108074792 | regulatory region variant | A/G | snv | 6.5E-02 | 1 | ||
rs13294895 | 0.925 | 0.080 | 9 | 108074895 | regulatory region variant | C/T | snv | 0.12 | 1 | ||
rs865686 | 0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv | 2 | |||
rs869312754 | 0.925 | 0.120 | 11 | 108227594 | splice acceptor variant | G/T | snv | 3 | |||
rs55861249 | 0.925 | 0.280 | 11 | 108227806 | stop gained | C/A;T | snv | 7.2E-05; 2.0E-05 | 3 | ||
rs730881333 | 0.882 | 0.280 | 11 | 108243994 | stop gained | C/A;T | snv | 4.1E-06; 8.1E-06 | 1 | ||
rs730881336 | 0.925 | 0.280 | 11 | 108244867 | stop gained | C/T | snv | 8.0E-06 | 3 | ||
rs748840480 | 0.925 | 0.280 | 11 | 108245027 | splice donor variant | G/A;C;T | snv | 1.6E-05 | 3 | ||
rs1185204988 | 0.925 | 0.280 | 11 | 108248987 | stop gained | C/G;T | snv | 4.0E-06 | 2 | ||
rs1555069815 | 0.925 | 0.280 | 11 | 108249082 | frameshift variant | T/- | del | 3 | |||
rs749036865 | 0.925 | 0.280 | 11 | 108250834 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06 | 3 |