Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs147204125 | 0.925 | 0.040 | 14 | 73609035 | intron variant | A/G | snv | 9.8E-03 | 2 | ||
rs149232047 | 0.925 | 0.040 | 6 | 126276990 | intergenic variant | A/G | snv | 1.5E-04 | 2 | ||
rs3784929 | 0.925 | 0.160 | 16 | 75643129 | intron variant | A/G | snv | 0.30 | 2 | ||
rs559110055 | 0.925 | 0.160 | 9 | 104840491 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs4977574 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 26 | |||
rs10507391 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 10 | ||
rs1333047 | 0.790 | 0.240 | 9 | 22124505 | intron variant | A/T | snv | 0.63 | 9 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs76863441 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 25 | |
rs622064 | 0.882 | 0.240 | 11 | 73961529 | intron variant | C/A | snv | 0.30 | 3 | ||
rs1234314 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 7 | |||
rs11638352 | 0.925 | 0.040 | 15 | 44000939 | intron variant | C/A;G | snv | 2 | |||
rs4668123 | 0.851 | 0.280 | 2 | 169196995 | missense variant | C/A;G;T | snv | 6 | |||
rs9818870 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 9 | |||
rs822442 | 0.851 | 0.160 | 1 | 156913423 | missense variant | C/A;T | snv | 0.14; 4.0E-06 | 4 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs11053646 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 18 | |
rs12696304 | 0.776 | 0.320 | 3 | 169763483 | downstream gene variant | C/G | snv | 0.38 | 10 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 |