Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 8 | 10002570 | intron variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 |
|
0.710 | < 0.001 | 0 | 2009 | 2009 | |||||||
|
0.882 | 0.200 | 3 | 10289835 | missense variant | C/T | snv | 7.0E-03 | 7.3E-03 |
|
0.710 | 1.000 | 0 | 2002 | 2002 | |||||||
|
1.000 | 0.080 | 7 | 104863366 | intron variant | G/A | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 13 | 107138053 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 109604699 | intron variant | C/T | snv | 4.7E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 112390634 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.120 | 8 | 11319901 | non coding transcript exon variant | G/A | snv | 0.35 |
|
0.720 | 1.000 | 1 | 2007 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 120437605 | regulatory region variant | A/G | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.200 | 12 | 122517404 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 3 | 12381349 | missense variant | C/A | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 4 | 129810129 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 6 | 131488780 | intron variant | T/C | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 8 | 136793525 | intron variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 3 | 139185143 | intron variant | G/T | snv | 9.4E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.200 | 5 | 150375721 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 10 | 16257952 | intergenic variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2009 | 2013 | |||||||||
|
0.925 | 0.120 | 11 | 16368048 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 11 | 16381965 | intron variant | T/C | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 2 | 166048938 | inframe deletion | AAT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 20 | 16988369 | intergenic variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 4 | 174701439 | intron variant | G/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
0.720 | 0.667 | 1 | 2009 | 2013 |