Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
rs752362727 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 22 | ||
rs121918130 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 18 | ||
rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
rs376493409 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 12 | ||
rs281865192 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 11 | ||
rs886039807 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 11 | ||
rs539400286 | 0.763 | 0.280 | 12 | 88086083 | stop gained | G/A | snv | 1.6E-05 | 2.1E-05 | 9 | |
rs1170451277 | 0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 | 8 | ||
rs386834180 | 0.776 | 0.360 | 8 | 93781725 | missense variant | T/C | snv | 2.0E-05 | 4.2E-05 | 8 | |
rs752659088 | 0.882 | 0.240 | 17 | 6624770 | synonymous variant | G/A | snv | 6.5E-05 | 8 | ||
rs760915898 | 0.776 | 0.280 | 12 | 88086038 | splice donor variant | C/T | snv | 5.4E-05 | 9.1E-05 | 8 | |
rs776645403 | 0.776 | 0.280 | 12 | 88125357 | stop gained | G/A | snv | 3.8E-05 | 2.1E-05 | 8 | |
rs886039794 | 0.851 | 0.480 | 8 | 85109594 | splice acceptor variant | G/C | snv | 8 | |||
rs965522059 | 0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 | 8 | ||
rs386834152 | 0.790 | 0.280 | 12 | 88114488 | stop gained | G/A | snv | 5.1E-05 | 4.9E-05 | 7 | |
rs863225235 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs386833750 | 0.807 | 0.360 | 4 | 15563485 | stop gained | C/A;G;T | snv | 2.0E-05; 2.0E-05 | 6 | ||
rs764109067 | 0.851 | 0.280 | 3 | 94036664 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
rs773386777 | 1.000 | 0.160 | 12 | 88093977 | splice acceptor variant | T/C | snv | 6 | |||
rs775883520 | 0.851 | 0.240 | 8 | 93780603 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 6 | |
rs886039811 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs121918204 | 0.827 | 0.360 | 16 | 53652637 | stop gained | G/A | snv | 6.4E-05 | 2.1E-05 | 5 | |
rs1555599412 | 0.827 | 0.320 | 17 | 58213011 | stop gained | C/A | snv | 5 | |||
rs201108965 | 0.851 | 0.320 | 11 | 61393965 | missense variant | G/A;T | snv | 8.0E-06; 1.7E-04 | 5 |