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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 4 | 89720189 | intron variant | T/A;C | snv |
|
0.850 | 1.000 | 7 | 2010 | 2016 | |||||||||
|
0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv |
|
0.860 | 1.000 | 6 | 2009 | 2018 | |||||||||
|
1.000 | 0.040 | 17 | 45651010 | non coding transcript exon variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 5 | 2009 | 2014 | ||||||||
|
0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 5 | 2009 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 45436075 | 3 prime UTR variant | C/T | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 4 | 2009 | 2012 | |||||||
|
0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv |
|
0.900 | 1.000 | 4 | 2009 | 2020 | |||||||||
|
1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 |
|
0.800 | 1.000 | 4 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 45913906 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 4 | 2009 | 2014 | ||||||||
|
0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 |
|
0.800 | 1.000 | 4 | 2009 | 2012 | |||||||
|
0.925 | 0.120 | 17 | 46751565 | synonymous variant | G/A | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 4 | 2009 | 2012 | |||||||
|
0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 |
|
0.900 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 17 | 45690407 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 4 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 3 | 183103487 | intron variant | G/A | snv | 0.12 |
|
0.810 | 1.000 | 3 | 2011 | 2013 | ||||||||
|
0.925 | 0.080 | 4 | 15735478 | intron variant | C/A;G | snv | 0.43 |
|
0.880 | 0.846 | 3 | 2011 | 2019 | ||||||||
|
0.851 | 0.160 | 17 | 45846317 | missense variant | A/G | snv | 0.15 | 0.14 |
|
0.810 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.925 | 0.120 | 17 | 45846764 | missense variant | G/A | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | |||||||
|
0.925 | 0.160 | 17 | 46712837 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.882 | 0.160 | 17 | 45847931 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45979401 | non coding transcript exon variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 40034759 | intron variant | G/A;T | snv |
|
0.810 | 1.000 | 3 | 2009 | 2016 | |||||||||
|
1.000 | 0.040 | 2 | 168260515 | intergenic variant | G/T | snv | 0.15 |
|
0.820 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
1.000 | 0.040 | 17 | 46215654 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2009 | 2012 | |||||||||
|
0.925 | 0.120 | 17 | 45637484 | non coding transcript exon variant | G/A;C;T | snv | 0.14 |
|
0.820 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 4 | 89685446 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2009 | 2012 | |||||||||
|
1.000 | 0.040 | 4 | 89788590 | intron variant | G/A | snv | 0.25 |
|
0.710 | 1.000 | 3 | 2009 | 2012 |