Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs185229225 | 0.851 | 0.120 | 4 | 13607505 | intron variant | T/C | snv | 4 | |||
rs587780259 | 0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 | 4 | |
rs7405776 | 0.807 | 0.120 | 17 | 37733029 | intron variant | G/A;C | snv | 4 | |||
rs10088218 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 3 | ||
rs1064793881 | 0.925 | 0.120 | 17 | 7673784 | missense variant | C/T | snv | 3 | |||
rs10962692 | 0.925 | 0.120 | 9 | 16915876 | upstream gene variant | G/A;C | snv | 3 | |||
rs11782652 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 3 | ||
rs2072590 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 3 | |||
rs28933370 | 0.882 | 0.120 | 17 | 39725125 | missense variant | A/G | snv | 7.0E-06 | 3 | ||
rs397507215 | 0.925 | 0.120 | 17 | 43092179 | stop gained | G/A | snv | 3 | |||
rs587781490 | 0.925 | 0.120 | 17 | 58696790 | stop gained | A/G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs62274041 | 0.925 | 0.120 | 3 | 156717851 | upstream gene variant | G/A;T | snv | 3 | |||
rs6755777 | 0.882 | 0.120 | 2 | 176178498 | non coding transcript exon variant | T/A;G | snv | 3 | |||
rs711830 | 0.882 | 0.120 | 2 | 176172583 | 3 prime UTR variant | A/C;G;T | snv | 0.76 | 3 | ||
rs7651446 | 0.882 | 0.120 | 3 | 156689208 | intron variant | G/T | snv | 7.9E-02 | 3 | ||
rs786203853 | 0.925 | 0.120 | 13 | 32339850 | frameshift variant | -/T | delins | 3 | |||
rs80357068 | 0.925 | 0.120 | 17 | 43094338 | stop gained | G/A;C;T | snv | 4.0E-06 | 3 | ||
rs80357760 | 0.925 | 0.120 | 17 | 43063941 | frameshift variant | AA/-;AAA | delins | 3 | |||
rs80357821 | 0.925 | 0.120 | 17 | 43094404 | frameshift variant | T/- | delins | 3 | |||
rs876658297 | 0.925 | 0.120 | 17 | 35107108 | frameshift variant | TACA/- | delins | 7.0E-06 | 3 | ||
rs886040129 | 0.925 | 0.120 | 17 | 43104221 | frameshift variant | A/- | del | 3 | |||
rs886040914 | 0.925 | 0.120 | 17 | 43063872 | splice donor variant | A/C;G;T | snv | 3 | |||
rs9303542 | 0.882 | 0.120 | 17 | 48334138 | intron variant | A/G | snv | 0.34 | 3 | ||
rs1114167776 | 1.000 | 0.120 | 2 | 47791020 | frameshift variant | -/T | delins | 2 | |||
rs137852691 | 0.925 | 0.120 | 11 | 132657203 | missense variant | G/A;C | snv | 8.0E-06 | 2 |