Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519852 | 9 | 21971030 | stop gained | C/T | snv | 1 | |||||
rs1060501260 | 9 | 21971156 | missense variant | G/A;C | snv | 4.7E-06 | 1 | ||||
rs1060501265 | 1.000 | 0.120 | 9 | 21974676 | splice donor variant | A/G | snv | 1 | |||
rs1060501266 | 1.000 | 0.120 | 9 | 21968347 | intron variant | T/C | snv | 7.0E-06 | 1 | ||
rs1060504185 | 9 | 21971116 | missense variant | G/A;C | snv | 1 | |||||
rs1131691188 | 9 | 21974782 | frameshift variant | -/C | delins | 1 | |||||
rs11552823 | 1.000 | 0.040 | 9 | 21971117 | missense variant | G/A;C | snv | 4.3E-06 | 1 | ||
rs116150891 | 1.000 | 0.040 | 9 | 21970929 | missense variant | G/A;C | snv | 5.6E-04 | 2.6E-03 | 1 | |
rs121913382 | 9 | 21971178 | stop gained | C/A;T | snv | 4.6E-06 | 1 | ||||
rs121913383 | 9 | 21971154 | stop gained | C/A | snv | 1 | |||||
rs121913389 | 9 | 21971029 | stop gained | C/T | snv | 1 | |||||
rs1277299943 | 9 | 21974817 | missense variant | G/C | snv | 1.3E-05 | 1 | ||||
rs1309566180 | 1.000 | 0.080 | 9 | 21971170 | missense variant | C/T | snv | 1 | |||
rs1329443726 | 1.000 | 0.080 | 9 | 21971097 | frameshift variant | C/- | delins | 1 | |||
rs1377159790 | 9 | 21971203 | start lost | C/T | snv | 4.5E-06 | 1 | ||||
rs137854597 | 1.000 | 9 | 21971094 | missense variant | C/T | snv | 4.3E-06 | 1 | |||
rs1416122398 | 1.000 | 0.080 | 9 | 21974791 | missense variant | C/A;G | snv | 4.3E-06 | 1 | ||
rs1554653915 | 1.000 | 0.120 | 9 | 21970966 | splice donor variant | GCGCAGGTACCGT/CGCATC | delins | 1 | |||
rs1554653956 | 1.000 | 0.120 | 9 | 21971004 | frameshift variant | CCAGGTCCACGGGCAG/- | delins | 1 | |||
rs1554653976 | 9 | 21971015 | frameshift variant | -/GGGC | delins | 1 | |||||
rs1554654052 | 1.000 | 0.120 | 9 | 21971076 | frameshift variant | C/- | delins | 1 | |||
rs1554654224 | 9 | 21971210 | splice acceptor variant | T/C | snv | 1 | |||||
rs1554656253 | 9 | 21974696 | stop gained | G/A;C | snv | 1 | |||||
rs1554656411 | 1.000 | 0.120 | 9 | 21974749 | stop gained | C/A | snv | 1 | |||
rs1554656624 | 1.000 | 0.120 | 9 | 21974798 | frameshift variant | C/- | del | 1 |