Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35301225 | 0.882 | 0.080 | 1 | 9151743 | mature miRNA variant | C/A;T | snv | 5 | |||
rs1172398253 | 0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs5780218 | 0.882 | 0.080 | 1 | 204196482 | 5 prime UTR variant | A/- | delins | 0.44 | 4 | ||
rs11121704 | 1 | 11233902 | intron variant | C/A;T | snv | 3 | |||||
rs1196644309 | 1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv | 3 | |||
rs34296044 | 0.925 | 0.080 | 1 | 241885371 | frameshift variant | C/- | delins | 3 | |||
rs772551056 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 3 | ||
rs2994809 | 1 | 119809354 | intron variant | T/C | snv | 0.91 | 1 | ||||
rs684559 | 1 | 111215824 | intron variant | G/A | snv | 0.27 | 1 | ||||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 83 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs523349 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 21 | ||
rs371074389 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 16 | |
rs766914563 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 16 | ||
rs781172058 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 16 | ||
rs13387042 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 15 | ||
rs2230774 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 12 | ||
rs966423 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 11 | |||
rs1057519783 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 9 | |||
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs2303428 | 0.776 | 0.240 | 2 | 47476361 | splice region variant | T/A;C;G | snv | 4.0E-06; 0.12 | 9 | ||
rs4671393 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 9 | |||
rs4442975 | 0.827 | 0.120 | 2 | 217056046 | intergenic variant | G/T | snv | 0.47 | 7 | ||
rs11902171 | 0.925 | 0.080 | 2 | 186678500 | 3 prime UTR variant | G/C | snv | 0.22 | 6 |