Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs797044519 | 0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv | 9 | ||||
rs797044522 | 0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins | 9 | ||||
rs797044523 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 9 | ||||
rs797044524 | 0.925 | 21 | 37486513 | missense variant | A/T | snv | 9 | ||||
rs797044525 | 0.925 | 21 | 37490244 | missense variant | T/G | snv | 9 | ||||
rs1554402092 | 1.000 | 7 | 44254555 | missense variant | C/T | snv | 8 | ||||
rs797044521 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 8 | ||||
rs1556009247 | 0.882 | X | 72490973 | missense variant | A/C;T | snv | 7 | ||||
rs724159948 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 7 | ||||
rs724159953 | 1.000 | 21 | 37505352 | stop gained | C/T | snv | 7 | ||||
rs113331868 | 5 | 150228191 | splice donor variant | C/A;T | snv | 6 | |||||
rs724159951 | 21 | 37493101 | missense variant | T/C | snv | 6 | |||||
rs724159952 | 21 | 37490451 | frameshift variant | -/G | delins | 6 | |||||
rs724159954 | 21 | 37490353 | frameshift variant | -/A | delins | 6 | |||||
rs724159955 | 1.000 | 21 | 37512002 | missense variant | C/A | snv | 6 | ||||
rs724159956 | 21 | 37496249 | frameshift variant | -/G | delins | 6 | |||||
rs797044520 | 0.925 | 21 | 37505442 | stop gained | C/T | snv | 6 | ||||
rs1189909394 | 11 | 64298178 | missense variant | G/A;C | snv | 7.0E-06 | 5 | ||||
rs1256028809 | 1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 | 5 | |||
rs144900171 | 0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 | 5 | ||
rs1553196096 | 1 | 22086463 | missense variant | G/A | snv | 5 | |||||
rs1565369746 | 11 | 64297507 | missense variant | C/A | snv | 5 | |||||
rs1565922388 | 0.925 | 12 | 79353599 | missense variant | T/A | snv | 5 | ||||
rs1565922395 | 0.925 | 12 | 79353602 | missense variant | A/G | snv | 5 | ||||
rs1565962725 | 0.925 | 12 | 79448953 | missense variant | C/A | snv | 5 |