Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs375053470 | 5 | 13794031 | stop gained | G/A | snv | 1.6E-05; 4.0E-06 | 1.4E-05 | 2 | |||
rs781469274 | 5 | 13792128 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 2 | |||
rs1007345781 | 3 | 180616604 | frameshift variant | GT/- | delins | 8.7E-06 | 2.8E-05 | 1 | |||
rs1034327724 | 6 | 116628160 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 1 | |||
rs1060500990 | 19 | 48303645 | splice region variant | C/T | snv | 1.4E-05 | 1 | ||||
rs1060501181 | X | 38297332 | stop gained | G/A | snv | 1 | |||||
rs1060501454 | 5 | 13780960 | splice acceptor variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs1060501455 | 5 | 13788898 | stop gained | C/T | snv | 1 | |||||
rs1060501456 | 5 | 13721014 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
rs1060501457 | 5 | 13829680 | frameshift variant | CC/T | delins | 1 | |||||
rs1060501458 | 5 | 13891020 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
rs1060501459 | 5 | 13793713 | frameshift variant | -/AT | delins | 4.0E-06 | 1 | ||||
rs1060501461 | 5 | 13829661 | frameshift variant | T/- | delins | 7.0E-06 | 1 | ||||
rs1060501466 | 5 | 13867773 | splice donor variant | C/A | snv | 1 | |||||
rs1060501467 | 5 | 13708130 | stop gained | C/A;T | snv | 1 | |||||
rs1060501719 | 17 | 80087748 | frameshift variant | CA/ACCG | delins | 1 | |||||
rs1060501861 | 21 | 42486448 | frameshift variant | -/T | delins | 4.0E-06 | 2.8E-05 | 1 | |||
rs1060502202 | 17 | 74301057 | stop gained | G/A | snv | 1 | |||||
rs1060502829 | 16 | 84149072 | stop gained | C/T | snv | 1 | |||||
rs1060502831 | 19 | 55161694 | frameshift variant | -/CGTCG | delins | 1 | |||||
rs1060503041 | 7 | 21748743 | splice donor variant | G/A | snv | 1 | |||||
rs1060503063 | 7 | 21842641 | stop gained | C/T | snv | 1.4E-05 | 1 | ||||
rs1060503064 | 7 | 21854418 | missense variant | T/C | snv | 1 | |||||
rs1060503095 | 15 | 55497816 | frameshift variant | GGA/AG | delins | 1 | |||||
rs1060503388 | 5 | 55231653 | stop gained | G/A | snv | 5.3E-06 | 1 |