Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691003 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 12 | |||
rs1131691042 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 12 | |||
rs111033565 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 11 | ||
rs17281995 | 0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv | 11 | |||
rs267606982 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 11 | |||
rs746284240 | 0.763 | 0.240 | 12 | 68809243 | missense variant | A/G | snv | 11 | |||
rs1057519921 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 10 | |||
rs2237895 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 10 | |||
rs7164773 | 0.790 | 0.240 | 15 | 60775749 | intron variant | C/A;T | snv | 10 | |||
rs1194611372 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 9 | |||
rs121913527 | 0.807 | 0.320 | 12 | 25225628 | missense variant | C/A;G;T | snv | 9 | |||
rs1322648460 | 0.776 | 0.320 | 11 | 35139332 | frameshift variant | G/- | delins | 9 | |||
rs35385902 | 0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 | 9 | ||
rs1037189404 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 8 | |||
rs111966833 | 0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 | 8 | ||
rs1799966 | 0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 | 8 | ||
rs199769221 | 0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 8 | ||
rs31490 | 0.776 | 0.280 | 5 | 1344343 | splice region variant | G/A;T | snv | 0.37; 8.0E-06 | 8 | ||
rs36115365 | 0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv | 7 | |||
rs587778883 | 0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del | 7 | |||
rs7310409 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 7 | |||
rs11571836 | 0.827 | 0.200 | 13 | 32399302 | 3 prime UTR variant | A/G;T | snv | 6 | |||
rs2162679 | 0.851 | 0.240 | 12 | 102477481 | intron variant | C/G;T | snv | 6 | |||
rs281875322 | 0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs4668123 | 0.851 | 0.280 | 2 | 169196995 | missense variant | C/A;G;T | snv | 6 |