Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs140948465 | 0.925 | 0.120 | 4 | 127930800 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs267607235 | 1.000 | 0.120 | 4 | 127921639 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 2 | |
rs587778809 | 0.925 | 0.120 | 4 | 127938781 | splice donor variant | A/T | snv | 8.0E-06 | 2.8E-05 | 2 | |
rs724159970 | 0.925 | 0.120 | 4 | 127921733 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs724159971 | 0.925 | 0.120 | 4 | 127920743 | stop gained | G/A | snv | 2.0E-05 | 2.8E-05 | 2 | |
rs727502800 | 0.925 | 0.120 | 4 | 127921860 | missense variant | C/G | snv | 2 | |||
rs1043984708 | 1.000 | 0.120 | 4 | 127920794 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 1 | ||
rs1162750836 | 1.000 | 0.120 | 4 | 127942119 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs118203975 | 1.000 | 0.120 | 4 | 127930752 | missense variant | C/T | snv | 1 | |||
rs118203976 | 1.000 | 0.120 | 4 | 127921588 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs118203977 | 1.000 | 0.120 | 4 | 127930787 | stop gained | A/C;G | snv | 4.0E-06; 1.2E-05 | 1 | ||
rs118203978 | 1.000 | 0.120 | 4 | 127943829 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||
rs1275962600 | 1.000 | 0.120 | 4 | 127920793 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs1439582451 | 1.000 | 0.120 | 4 | 127921926 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||
rs1460276679 | 1.000 | 0.120 | 4 | 127921876 | frameshift variant | G/- | delins | 1.2E-05 | 1 | ||
rs1560776422 | 1.000 | 0.120 | 4 | 127957591 | splice acceptor variant | C/A | snv | 1 | |||
rs556661896 | 1.000 | 0.120 | 4 | 127942073 | stop gained | A/G;T | snv | 1 | |||
rs559155109 | 1.000 | 0.120 | 4 | 127920826 | missense variant | A/G | snv | 1.1E-04 | 1.4E-05 | 1 | |
rs727502801 | 1.000 | 0.120 | 4 | 127932981 | frameshift variant | -/A | ins | 1.6E-05 | 1 | ||
rs749704755 | 1.000 | 0.120 | 4 | 127943775 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs751696703 | 1.000 | 0.120 | 4 | 127942160 | splice acceptor variant | T/A | snv | 1 | |||
rs764549054 | 1.000 | 0.120 | 4 | 127920779 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs779838200 | 1.000 | 0.120 | 4 | 127957501 | missense variant | C/T | snv | 1.6E-05 | 1 |