Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397516955 | 0.790 | 0.120 | 6 | 7562753 | stop gained | G/A | snv | 9 | |||
rs727504443 | 0.851 | 0.120 | 6 | 7565521 | splice donor variant | G/A | snv | 7.0E-06 | 5 | ||
rs1554108012 | 0.882 | 0.120 | 6 | 7579323 | stop gained | C/T | snv | 4 | |||
rs1554108152 | 0.882 | 0.120 | 6 | 7579922 | frameshift variant | -/AAATCGA | delins | 4 | |||
rs1554108431 | 0.882 | 0.120 | 6 | 7581189 | stop gained | C/T | snv | 4 | |||
rs397516943 | 0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 | 4 | ||
rs587782927 | 0.882 | 0.080 | 6 | 7574084 | splice region variant | AG/- | delins | 4 | |||
rs121912997 | 0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv | 3 | |||
rs1554108287 | 0.925 | 0.080 | 6 | 7580495 | frameshift variant | CACTG/- | del | 3 | |||
rs1554105614 | 1.000 | 0.080 | 6 | 7555773 | stop gained | C/T | snv | 2 | |||
rs727503000 | 1.000 | 0.080 | 6 | 7579663 | frameshift variant | -/A | delins | 2 | |||
rs727503001 | 1.000 | 0.080 | 6 | 7579820 | stop gained | T/A | snv | 2 | |||
rs727503003 | 1.000 | 0.080 | 6 | 7581012 | frameshift variant | -/A | delins | 2 | |||
rs794728136 | 1.000 | 0.080 | 6 | 7555820 | frameshift variant | T/- | del | 2 | |||
rs148894066 | 6 | 7579697 | stop gained | C/A;T | snv | 1.4E-04 | 1 | ||||
rs1561703922 | 6 | 7584830 | frameshift variant | ACAG/- | delins | 1 | |||||
rs397516913 | 6 | 7567781 | frameshift variant | T/- | delins | 1 | |||||
rs397516927 | 6 | 7577007 | frameshift variant | -/A | delins | 1 | |||||
rs397516945 | 6 | 7559337 | frameshift variant | -/A | ins | 1 | |||||
rs397516956 | 6 | 7562762 | frameshift variant | -/A | delins | 1 | |||||
rs397516973 | 6 | 7565448 | stop gained | C/A;T | snv | 1.2E-05 | 1 | ||||
rs727502994 | 6 | 7581565 | splice donor variant | -/AG | delins | 1 | |||||
rs727504498 | 6 | 7570477 | stop gained | C/T | snv | 1 | |||||
rs727504738 | 6 | 7559294 | frameshift variant | CC/AGCTCGAGTCCCTCG | delins | 1 | |||||
rs727505077 | 6 | 7571432 | frameshift variant | A/- | del | 1 |