Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 1 | 85267901 | frameshift variant | A/-;AAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 85270732 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 85267788 | frameshift variant | TGCCTACTTCTAGAACA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 85267919 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 85267930 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 85267692 | inframe deletion | TCT/- | delins | 0.700 | 0 | ||||||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.120 | 17 | 7674889 | missense variant | A/C;G | snv | 3.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 17 | 7673308 | stop lost | T/G | snv | 2.3E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
11 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.790 | 0.280 | 6 | 151949537 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 1 | 161626395 | synonymous variant | C/T | snv | 2.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 32684540 | regulatory region variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 6 | 33190412 | intron variant | A/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 6 | 31617223 | upstream gene variant | T/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 6 | 31675622 | downstream gene variant | T/A;C | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 |