Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1000256867 | 17 | 7673550 | missense variant | T/A;G | snv | 4.0E-06 | 1 | ||||
rs1057517983 | 1.000 | 0.120 | 17 | 7674232 | missense variant | C/A;G;T | snv | 1 | |||
rs1057519976 | 17 | 7675207 | missense variant | G/A;C | snv | 1 | |||||
rs1057519980 | 1.000 | 17 | 7675084 | missense variant | G/C | snv | 1 | ||||
rs1057519982 | 1.000 | 0.080 | 17 | 7674239 | missense variant | A/C;G;T | snv | 1 | |||
rs1057522275 | 17 | 7674246 | missense variant | G/A;C | snv | 1 | |||||
rs1060501194 | 1.000 | 0.120 | 17 | 7673830 | frameshift variant | G/- | del | 1 | |||
rs1060501195 | 17 | 7676056 | missense variant | C/G;T | snv | 1 | |||||
rs1060501197 | 1.000 | 0.120 | 17 | 7674247 | frameshift variant | T/- | delins | 1 | |||
rs1060501199 | 1.000 | 0.120 | 17 | 7673577 | missense variant | C/A;T | snv | 1 | |||
rs1060501206 | 17 | 7675056 | missense variant | C/T | snv | 8.0E-06 | 1 | ||||
rs1060501207 | 1.000 | 0.120 | 17 | 7673839 | splice acceptor variant | T/C | snv | 1 | |||
rs1060501212 | 1.000 | 0.120 | 17 | 7674973 | splice acceptor variant | TAA/- | del | 1 | |||
rs1064792930 | 1.000 | 0.120 | 17 | 7675152 | frameshift variant | CGGGCGGGGGTGT/- | del | 1 | |||
rs1064794309 | 1.000 | 0.120 | 17 | 7674197 | inframe deletion | ATG/- | delins | 1 | |||
rs1064794311 | 1.000 | 0.040 | 17 | 7674214 | missense variant | G/A | snv | 1 | |||
rs1064795860 | 1.000 | 0.080 | 17 | 7675155 | missense variant | G/A | snv | 1 | |||
rs1064796681 | 1.000 | 0.120 | 17 | 7675091 | missense variant | C/T | snv | 1 | |||
rs1064796722 | 1.000 | 0.120 | 17 | 7676043 | missense variant | A/C;G | snv | 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 |