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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 4 | 67919056 | missense variant | T/A;C;G | snv | 0.67 |
|
0.040 | 1.000 | 4 | 2006 | 2013 | ||||||||
|
0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 |
|
0.720 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.882 | 0.080 | 18 | 36114157 | synonymous variant | G/A | snv | 0.33 | 0.30 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||
|
1.000 | 0.080 | 10 | 94171330 | missense variant | G/A;T | snv | 3.2E-05; 0.17 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.080 | 20 | 63696914 | missense variant | C/G;T | snv | 0.25 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
1.000 | 0.080 | 20 | 763738 | missense variant | G/A;C | snv | 0.10; 1.2E-05 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.827 | 0.080 | 1 | 43179740 | intron variant | G/A | snv | 0.18 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
1.000 | 0.080 | 19 | 48955313 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 14 | 31393927 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 22 | 28734312 | intron variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 99307309 | 3 prime UTR variant | T/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 6 | 40834522 | intergenic variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 93991742 | intergenic variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 10 | 94328109 | 3 prime UTR variant | G/C | snv | 6.3E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 42964464 | synonymous variant | C/T | snv | 0.48 | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 11787703 | 3 prime UTR variant | G/A | snv | 5.0E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 19 | 582982 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 1 | 153615864 | splice region variant | C/T | snv | 0.40 | 0.39 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 10 | 93993019 | regulatory region variant | T/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 19975471 | 3 prime UTR variant | G/A | snv | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 161323623 | synonymous variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 6 | 40354019 | intron variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 1 | 153614902 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.080 | 3 | 30606915 | missense variant | C/T | snv | 9.2E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |