Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554108287 | 0.925 | 0.080 | 6 | 7580495 | frameshift variant | CACTG/- | del | 3 | |||
rs397517025 | 0.925 | 0.120 | 12 | 32878984 | frameshift variant | TGTA/- | del | 2 | |||
rs397517408 | 1.000 | 0.080 | 18 | 31093617 | frameshift variant | G/- | del | 2 | |||
rs794728136 | 1.000 | 0.080 | 6 | 7555820 | frameshift variant | T/- | del | 2 | |||
rs1555148259 | 1.000 | 0.080 | 12 | 32878979 | frameshift variant | CCAAG/- | del | 1 | |||
rs397517005 | 1.000 | 0.080 | 12 | 32824142 | frameshift variant | G/- | del | 1 | |||
rs397517009 | 1.000 | 0.080 | 12 | 32824091 | frameshift variant | A/- | del | 1 | |||
rs727504786 | 1.000 | 0.080 | 12 | 32792670 | frameshift variant | T/- | del | 1 | |||
rs1554108152 | 0.882 | 0.120 | 6 | 7579922 | frameshift variant | -/AAATCGA | delins | 4 | |||
rs1554108410 | 0.882 | 0.120 | 6 | 7581072 | frameshift variant | AGGAG/TTCT | delins | 3 | |||
rs397516989 | 0.925 | 0.080 | 12 | 32850932 | frameshift variant | -/A | delins | 3 | |||
rs397516997 | 0.925 | 0.080 | 12 | 32896581 | frameshift variant | TCTG/- | delins | 2.8E-05 | 3 | ||
rs727504432 | 0.882 | 0.120 | 12 | 32792712 | frameshift variant | T/- | delins | 3 | |||
rs397516996 | 1.000 | 0.080 | 12 | 32896718 | frameshift variant | C/- | delins | 2 | |||
rs397517010 | 0.925 | 0.080 | 12 | 32822616 | frameshift variant | -/A | delins | 4.0E-06; 4.0E-06 | 2 | ||
rs397517013 | 0.925 | 0.080 | 12 | 32822482 | frameshift variant | -/CTTC | delins | 2 | |||
rs397517021 | 0.925 | 0.080 | 12 | 32802500 | frameshift variant | GGTGTG/C;G | delins | 2 | |||
rs587777135 | 0.925 | 0.080 | 10 | 65966714 | inframe deletion | CAA/- | delins | 2 | |||
rs727503000 | 1.000 | 0.080 | 6 | 7579663 | frameshift variant | -/A | delins | 2 | |||
rs727503003 | 1.000 | 0.080 | 6 | 7581012 | frameshift variant | -/A | delins | 2 | |||
rs769220833 | 0.925 | 0.080 | 12 | 32878346 | frameshift variant | -/A | delins | 4.0E-06 | 7.0E-06 | 2 | |
rs794729137 | 0.925 | 0.080 | 12 | 32841073 | frameshift variant | C/- | delins | 2.1E-05 | 2 | ||
rs1555142971 | 1.000 | 0.080 | 12 | 32822502 | stop gained | -/AATACTTTTGTTGTTGTCA | delins | 1 | |||
rs1555142994 | 1.000 | 0.080 | 12 | 32822598 | frameshift variant | G/- | delins | 1 | |||
rs1555148011 | 1.000 | 0.080 | 12 | 32877845 | splice region variant | C/- | delins | 1 |