Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587779405 | 1.000 | 0.120 | 5 | 151266820 | frameshift variant | C/- | del | 1 | |||
rs1057516617 | 1.000 | 0.120 | 15 | 72346707 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs1057516755 | 1.000 | 0.120 | 15 | 72348075 | frameshift variant | TTGA/- | del | 1 | |||
rs1057516850 | 1.000 | 0.120 | 15 | 72353173 | frameshift variant | A/- | delins | 1 | |||
rs1057516908 | 1.000 | 0.120 | 15 | 72349260 | splice acceptor variant | C/G | snv | 1 | |||
rs1057517174 | 1.000 | 0.120 | 15 | 72353714 | frameshift variant | C/- | del | 2.1E-05 | 1 | ||
rs1057519458 | 1.000 | 0.120 | 15 | 72353724 | frameshift variant | A/- | delins | 1 | |||
rs1057519459 | 1.000 | 0.120 | 15 | 72353687 | splice region variant | T/G | snv | 1 | |||
rs1057519460 | 1.000 | 0.120 | 15 | 72353114 | missense variant | T/G | snv | 1 | |||
rs1057519461 | 1.000 | 0.120 | 15 | 72351168 | missense variant | A/G | snv | 1 | |||
rs1057519462 | 1.000 | 0.120 | 15 | 72350535 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs1057521137 | 1.000 | 0.120 | 15 | 72350575 | missense variant | C/T | snv | 1 | |||
rs121907952 | 1.000 | 0.120 | 15 | 72345528 | stop gained | C/A;T | snv | 8.0E-06 | 1 | ||
rs121907957 | 1.000 | 0.120 | 15 | 72353129 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs121907961 | 1.000 | 0.120 | 15 | 72351176 | missense variant | G/A | snv | 1 | |||
rs121907962 | 1.000 | 0.120 | 15 | 72355562 | stop gained | G/A | snv | 2.4E-05; 4.0E-06 | 3.5E-05 | 1 | |
rs121907963 | 1.000 | 0.120 | 15 | 72346680 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs121907968 | 1.000 | 0.120 | 15 | 72345519 | missense variant | A/G | snv | 1 | |||
rs121907969 | 1.000 | 0.120 | 15 | 72353098 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||
rs121907973 | 1.000 | 0.120 | 15 | 72351215 | stop lost | T/G | snv | 4.0E-06 | 1 | ||
rs121907974 | 1.000 | 0.120 | 15 | 72351173 | missense variant | A/G | snv | 1 | |||
rs121907975 | 1.000 | 0.120 | 15 | 72355591 | missense variant | A/C | snv | 1 | |||
rs121907976 | 1.000 | 0.120 | 15 | 72351194 | missense variant | T/C | snv | 1 | |||
rs121907977 | 1.000 | 0.120 | 15 | 72349163 | missense variant | A/C | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs1309204908 | 1.000 | 0.120 | 15 | 72345445 | splice donor variant | C/A;T | snv | 1 |