Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 35 | ||
rs34598529 | 0.724 | 0.280 | 11 | 5227100 | 5 prime UTR variant | T/C | snv | 8.9E-04 | 14 | ||
rs33941377 | 0.752 | 0.080 | 11 | 5227158 | 5 prime UTR variant | G/A;C;T | snv | 12 | |||
rs33944208 | 0.752 | 0.080 | 11 | 5227159 | 5 prime UTR variant | G/A;C;T | snv | 12 | |||
rs11549407 | 0.752 | 0.080 | 11 | 5226774 | stop gained | G/A;C;T | snv | 3.3E-04 | 11 | ||
rs33915217 | 0.752 | 0.080 | 11 | 5226925 | splice region variant | C/A;G;T | snv | 4.0E-06; 5.9E-04; 4.0E-06 | 11 | ||
rs33986703 | 0.752 | 0.080 | 11 | 5226970 | stop gained | T/A;C;G | snv | 5.6E-05; 3.2E-05 | 11 | ||
rs35004220 | 0.752 | 0.080 | 11 | 5226820 | non coding transcript exon variant | C/T | snv | 1.6E-04 | 9.1E-05 | 11 | |
rs33945777 | 0.763 | 0.080 | 11 | 5226576 | splice donor variant | C/A;G;T | snv | 4.0E-05 | 10 | ||
rs33971440 | 0.763 | 0.080 | 11 | 5226929 | splice donor variant | C/A;T | snv | 7.2E-05; 9.5E-05 | 10 | ||
rs34690599 | 0.763 | 0.080 | 11 | 5225832 | intron variant | G/C | snv | 2.8E-05 | 10 | ||
rs35724775 | 0.763 | 0.080 | 11 | 5226924 | splice region variant | A/G;T | snv | 1.2E-04 | 10 | ||
rs33946267 | 0.851 | 0.080 | 11 | 5225678 | stop gained | C/A;G;T | snv | 7.0E-04; 1.2E-05 | 4 | ||
rs63750860 | 1.000 | 0.080 | 11 | 5225654 | frameshift variant | CAGC/TGTGG | delins | 1 |