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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 177438764 | missense variant | C/G | snv | 7.8E-04 | 5.4E-04 |
|
0.840 | 1.000 | 4 | 1991 | 2016 | |||||||||
|
12 | 748335 | upstream gene variant | A/C;T | snv |
|
0.040 | 1.000 | 4 | 2005 | 2018 | |||||||||||
|
4 | 47661743 | missense variant | T/G | snv | 4.6E-03 | 2.0E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2012 | |||||||||
|
14 | 92932714 | missense variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2007 | 2016 | |||||||||||
|
5 | 151851530 | missense variant | G/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 1999 | 2004 | ||||||||||
|
16 | 11281429 | intron variant | G/T | snv | 0.21 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||||
|
20 | 57335452 | missense variant | C/T | snv | 5.7E-05 |
|
0.030 | 1.000 | 3 | 2011 | 2017 | ||||||||||
|
2 | 168179226 | intron variant | A/G | snv | 0.27 |
|
0.030 | 0.667 | 3 | 2011 | 2016 | ||||||||||
|
14 | 20457260 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.030 | 1.000 | 3 | 2001 | 2017 | |||||||||
|
2 | 168184876 | intron variant | T/G | snv | 0.37 |
|
0.030 | 0.667 | 3 | 2013 | 2018 | ||||||||||
|
4 | 47661782 | missense variant | G/A | snv | 4.6E-03 | 2.0E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2012 | |||||||||
|
14 | 92932705 | missense variant | G/A | snv | 3.1E-02 | 2.3E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2016 | |||||||||
|
12 | 89696964 | intron variant | C/T | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||||
|
10 | 133394232 | synonymous variant | C/A;G;T | snv | 9.2E-06; 9.2E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
11 | 35230997 | 3 prime UTR variant | G/A | snv | 6.8E-02 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
11 | 35230997 | 3 prime UTR variant | G/A | snv | 6.8E-02 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
2 | 54457420 | intron variant | A/G | snv | 0.76 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
6 | 43770833 | missense variant | G/A | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
6 | 96412478 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||||
|
19 | 44907825 | missense variant | G/A | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 |
|
0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||||
|
14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 |
|
0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||||
|
11 | 116790406 | stop gained | G/A;C | snv | 4.1E-05; 8.1E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
16 | 15778831 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.020 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
16 | 56608372 | upstream gene variant | A/G | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2014 | 2015 |