Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs867114783 | 17 | 7675109 | missense variant | T/C | snv | 6 | |||||
rs863224683 | 17 | 7675224 | missense variant | G/A;C | snv | 4 | |||||
rs1131691041 | 17 | 7676271 | frameshift variant | -/A | delins | 3 | |||||
rs750600586 | 17 | 7675199 | missense variant | G/A;T | snv | 3 | |||||
rs17880560 | 17 | 7668169 | intron variant | -/TGGCCG | delins | 2 | |||||
rs587780076 | 17 | 7673743 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 2 | ||||
rs587782148 | 17 | 7676113 | missense variant | C/T | snv | 2 | |||||
rs587782160 | 17 | 7675221 | missense variant | T/A | snv | 2 | |||||
rs758781593 | 17 | 7675204 | missense variant | T/A;C;G | snv | 8.0E-06 | 2 | ||||
rs786202055 | 17 | 7673714 | frameshift variant | C/- | delins | 2 | |||||
rs8078476 | 17 | 7677910 | intron variant | G/A | snv | 4.6E-02 | 2 | ||||
rs876660829 | 17 | 7673598 | missense variant | G/C;T | snv | 8.0E-06 | 2 | ||||
rs1000256867 | 17 | 7673550 | missense variant | T/A;G | snv | 4.0E-06 | 1 | ||||
rs1057519976 | 17 | 7675207 | missense variant | G/A;C | snv | 1 | |||||
rs1057522275 | 17 | 7674246 | missense variant | G/A;C | snv | 1 | |||||
rs1060501195 | 17 | 7676056 | missense variant | C/G;T | snv | 1 | |||||
rs1060501206 | 17 | 7675056 | missense variant | C/T | snv | 8.0E-06 | 1 | ||||
rs1131691005 | 17 | 7670691 | frameshift variant | T/- | del | 1 | |||||
rs1131691008 | 17 | 7670659 | frameshift variant | AG/- | delins | 1 | |||||
rs1131691010 | 17 | 7676120 | frameshift variant | GC/- | delins | 1 | |||||
rs1131691011 | 17 | 7674932 | frameshift variant | T/- | delins | 1 | |||||
rs1131691013 | 17 | 7675223 | missense variant | A/G | snv | 1 | |||||
rs1131691015 | 17 | 7676379 | splice donor variant | -/A | delins | 1 | |||||
rs1131691018 | 17 | 7676537 | frameshift variant | A/- | delins | 1 | |||||
rs1131691020 | 17 | 7676405 | splice acceptor variant | T/C | snv | 1 |