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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 35230997 | 3 prime UTR variant | G/A | snv | 6.8E-02 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 |
|
0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||||
|
22 | 28689135 | missense variant | C/A;G | snv | 4.3E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2007 | ||||||||||
|
17 | 43095876 | missense variant | C/A;T | snv |
|
0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||||||
|
6 | 128209162 | intron variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 18340813 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 143268092 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 127395871 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
20 | 46016407 | 3 prime UTR variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
13 | 32332560 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 5973425 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
6 | 83646407 | intron variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
12 | 130367629 | intron variant | G/T | snv | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
22 | 20092080 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 11233902 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
14 | 100846756 | non coding transcript exon variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
4 | 103196214 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 76715788 | intron variant | -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
11 | 535098 | intron variant | T/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 11915447 | missense variant | C/A | snv | 0.48 | 0.43 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
15 | 51227749 | intron variant | AGA/-;AGAAGA | delins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 73410405 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||||
|
6 | 160633826 | missense variant | C/T | snv | 1.7E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
12 | 9181030 | stop gained | G/A | snv | 6.6E-03 | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |