Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518813 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 8 | |||
rs104894743 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 7 | |||
rs797045050 | 0.807 | 0.120 | 2 | 240797715 | missense variant | C/T | snv | 6 | |||
rs104894490 | 0.827 | 0.240 | 15 | 22812252 | missense variant | G/A;C | snv | 5 | |||
rs119476046 | 0.827 | 0.240 | 14 | 50613343 | missense variant | C/T | snv | 5 | |||
rs1364050643 | 0.851 | 0.240 | 2 | 86232711 | missense variant | G/A | snv | 5 | |||
rs869312880 | 0.882 | 0.120 | 2 | 86232624 | splice donor variant | C/T | snv | 5 | |||
rs1057518760 | 1.000 | 0.080 | 2 | 240788182 | missense variant | C/T | snv | 4 | |||
rs1060499939 | 0.882 | 0.120 | 2 | 32137172 | missense variant | G/C;T | snv | 4 | |||
rs137852520 | 0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv | 4 | |||
rs397514513 | 0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv | 4 | |||
rs1085307110 | 0.925 | 0.120 | 3 | 134650909 | frameshift variant | -/ATGTCGATAGATACAGCACATGTCGATA | ins | 3 | |||
rs121434441 | 0.882 | 0.240 | 12 | 57569015 | missense variant | A/G | snv | 3 | |||
rs137852524 | 0.882 | 0.200 | X | 153869818 | missense variant | C/T | snv | 3 | |||
rs387906710 | 0.882 | 0.120 | X | 56565362 | missense variant | C/T | snv | 3 | |||
rs398123108 | 0.925 | 0.200 | X | 153743211 | intron variant | G/A;T | snv | 3 | |||
rs1057518697 | 0.925 | 0.120 | X | 53210820 | missense variant | G/A | snv | 2 | |||
rs1160357920 | 0.925 | 0.160 | 13 | 23339132 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs121434443 | 0.925 | 0.120 | 12 | 57569263 | missense variant | A/G | snv | 2 | |||
rs1259615333 | 0.925 | 0.160 | 13 | 23340970 | frameshift variant | GTCT/- | delins | 7.0E-06 | 2 | ||
rs1331505548 | 0.925 | 0.200 | 2 | 148949891 | missense variant | A/G | snv | 2 | |||
rs1553314978 | 0.925 | 0.120 | 2 | 32114826 | splice donor variant | G/A;T | snv | 2 | |||
rs1555177629 | 0.925 | 0.120 | 12 | 57567514 | missense variant | C/T | snv | 2 | |||
rs1555979596 | 1.000 | 0.080 | X | 74421994 | frameshift variant | CT/- | delins | 2 | |||
rs1562502139 | 0.925 | 0.200 | 7 | 22983996 | frameshift variant | TT/- | del | 2 |