Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs33917957 | 0.790 | 0.120 | 7 | 116700208 | missense variant | A/G | snv | 2.7E-02 | 1.8E-02 | 10 | |
rs4658973 | 0.882 | 0.080 | 1 | 117956431 | intron variant | T/G | snv | 0.34 | 3 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs2145418 | 0.882 | 0.080 | 1 | 118422631 | intergenic variant | C/A | snv | 0.78 | 3 | ||
rs4833837 | 0.827 | 0.200 | 4 | 122615808 | synonymous variant | G/A | snv | 0.74 | 0.77 | 5 | |
rs2221903 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 12 | ||
rs13143866 | 0.851 | 0.200 | 4 | 122619603 | intron variant | G/A | snv | 0.24 | 4 | ||
rs12508721 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 11 | ||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs12769288 | 0.882 | 0.080 | 10 | 129488086 | intron variant | C/T | snv | 0.10 | 3 | ||
rs145475805 | 0.882 | 0.080 | 8 | 132887509 | missense variant | A/G | snv | 8.8E-05 | 3.3E-04 | 4 | |
rs121913365 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 10 | |||
rs397507484 | 0.752 | 0.480 | 7 | 140753333 | missense variant | T/A;C;G | snv | 10 | |||
rs121913364 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 34 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2060793 | 0.776 | 0.240 | 11 | 14893764 | upstream gene variant | A/G | snv | 0.63 | 11 | ||
rs1248131654 | 0.851 | 0.080 | 2 | 160367217 | missense variant | G/A | snv | 1.4E-05 | 4 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs587777790 | 0.732 | 0.280 | 3 | 179199690 | missense variant | G/A | snv | 14 | |||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 23 | |||
rs17849071 | 0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 | 8 | ||
rs1057519936 | 0.776 | 0.200 | 3 | 179234284 | missense variant | A/G;T | snv | 11 |