| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 9 | 97700127 | non coding transcript exon variant | T/C | snv | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
9 | 21140673 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 21151554 | intergenic variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.040 | 10 | 129691518 | intron variant | A/C;G | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 11233902 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2020 | |||||||||
|
1.000 | 0.080 | 11 | 284257 | synonymous variant | G/A;C | snv | 0.16; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 39725161 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.876 | 89 | 2003 | 2019 | ||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.120 | 12 | 25209843 | missense variant | A/G;T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 3 | 133601021 | 3 prime UTR variant | G/A | snv | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.020 | 1.000 | 2 | 2005 | 2014 | |||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 201880120 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.925 | 0.080 | 17 | 78357871 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |