Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516390 | 1.000 | 0.120 | 13 | 76995901 | splice acceptor variant | G/- | del | 1 | |||
rs1057516814 | 1.000 | 0.120 | 13 | 76992171 | frameshift variant | TC/G | delins | 1 | |||
rs1057517134 | 1.000 | 0.120 | 13 | 76992250 | frameshift variant | ACTGGCCGGTGCC/- | delins | 1 | |||
rs121908292 | 1.000 | 0.120 | 13 | 77000799 | stop gained | G/T | snv | 1 | |||
rs147065248 | 1.000 | 0.120 | 13 | 76996034 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs1555273609 | 1.000 | 0.120 | 13 | 76992215 | frameshift variant | G/- | delins | 1 | |||
rs1555273882 | 1.000 | 0.120 | 13 | 76995079 | frameshift variant | C/- | delins | 1 | |||
rs1555273992 | 1.000 | 0.120 | 13 | 76995998 | frameshift variant | T/- | delins | 1 | |||
rs1555274014 | 1.000 | 0.120 | 13 | 76996128 | splice donor variant | G/A | snv | 1 | |||
rs1555274337 | 1.000 | 0.120 | 13 | 77000556 | frameshift variant | -/CAGAGACA | delins | 1 | |||
rs1555274344 | 1.000 | 0.120 | 13 | 77000605 | frameshift variant | CCTTTAAC/- | del | 1 | |||
rs1555274365 | 1.000 | 0.120 | 13 | 77000729 | frameshift variant | GGAA/- | delins | 1 | |||
rs1555274373 | 1.000 | 0.120 | 13 | 77000808 | frameshift variant | T/- | delins | 1 | |||
rs1555274387 | 1.000 | 0.120 | 13 | 77000883 | frameshift variant | T/- | delins | 1 | |||
rs200348035 | 1.000 | 0.120 | 13 | 76992182 | stop gained | G/A;T | snv | 4.5E-06 | 1 | ||
rs386833964 | 1.000 | 0.120 | 13 | 77000813 | frameshift variant | CT/- | delins | 1 | |||
rs386833968 | 1.000 | 0.120 | 13 | 77000882 | stop gained | G/A;T | snv | 4.3E-06 | 1 | ||
rs386833972 | 1.000 | 0.120 | 13 | 76995939 | stop gained | T/G | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs386833973 | 1.000 | 0.120 | 13 | 76995942 | frameshift variant | -/A | ins | 1 | |||
rs386833974 | 1.000 | 0.120 | 13 | 76995980 | stop gained | C/T | snv | 1 | |||
rs386833978 | 1.000 | 0.120 | 13 | 76996035 | missense variant | G/C | snv | 1 | |||
rs386833983 | 1.000 | 0.120 | 13 | 77000695 | frameshift variant | GGAAATGAAACATCTG/- | delins | 1 | |||
rs764790770 | 1.000 | 0.120 | 13 | 76992175 | stop gained | G/A;C | snv | 2.2E-04 | 2.8E-05 | 1 | |
rs148862100 | 1.000 | 0.120 | 13 | 77000866 | missense variant | A/G | snv | 1.3E-05 | 7.0E-06 | 1 | |
rs1555273567 | 1.000 | 0.120 | 13 | 76992116 | frameshift variant | C/- | del | 1 |