Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199422294 | 0.827 | 0.160 | 5 | 1280216 | missense variant | C/T | snv | 5 | |||
rs121918664 | 0.851 | 0.120 | 5 | 1254395 | missense variant | C/T | snv | 5.2E-05 | 9.1E-05 | 4 | |
rs121918661 | 0.882 | 0.120 | 5 | 1294282 | missense variant | C/T | snv | 3.2E-04 | 1.8E-04 | 3 | |
rs121918662 | 0.882 | 0.120 | 5 | 1279341 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs121918666 | 0.882 | 0.160 | 5 | 1266524 | missense variant | C/T | snv | 8.2E-06 | 7.0E-06 | 3 | |
rs34094720 | 0.882 | 0.040 | 5 | 1293652 | missense variant | G/A;T | snv | 3.3E-03; 6.0E-06 | 3 | ||
rs111576740 | 0.925 | 0.120 | 5 | 1266537 | splice acceptor variant | T/C;G | snv | 2 | |||
rs121918663 | 0.925 | 0.120 | 5 | 1272252 | missense variant | T/C | snv | 2 | |||
rs141425941 | 0.925 | 0.040 | 5 | 1272196 | missense variant | C/T | snv | 9.0E-05 | 1.5E-04 | 2 | |
rs199422300 | 0.925 | 0.120 | 5 | 1278687 | frameshift variant | A/- | del | 2 | |||
rs199422309 | 0.925 | 0.120 | 5 | 1294770 | splice donor variant | C/T | snv | 2 | |||
rs387907247 | 0.925 | 0.120 | 5 | 1294826 | missense variant | A/T | snv | 2 | |||
rs776981958 | 0.925 | 5 | 1279370 | missense variant | T/C | snv | 1.6E-04 | 1.3E-04 | 2 | ||
rs1554038048 | 1.000 | 5 | 1253728 | stop lost | T/C | snv | 1 | ||||
rs1554043041 | 1.000 | 5 | 1294306 | stop gained | GG/AA | mnv | 1 | ||||
rs201159197 | 1.000 | 5 | 1266519 | missense variant | C/A;T | snv | 4.1E-06 | 1 | |||
rs387907248 | 1.000 | 5 | 1294378 | missense variant | C/T | snv | 5.4E-06 | 1 | |||
rs387907249 | 1.000 | 5 | 1278781 | missense variant | C/T | snv | 1 | ||||
rs387907250 | 1.000 | 5 | 1264542 | missense variant | T/C | snv | 1 | ||||
rs387907251 | 1.000 | 5 | 1264479 | missense variant | G/A | snv | 4.0E-06 | 1 |