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 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
11 | 116748357 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
16 | 30907166 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
8 | 10826419 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
11 | 116736721 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||||
|
0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
8 | 19985951 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
0.851 | 0.200 | 11 | 61836038 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||||
|
0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
8 | 125465736 | upstream gene variant | G/A;C;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||||||
|
0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
19 | 19635342 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||||||
|
8 | 125469505 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
11 | 116784884 | missense variant | G/A;C | snv | 6.6E-02; 8.0E-06 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
15 | 58445142 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2009 | 2012 | |||||||||||
|
22 | 38150026 | non coding transcript exon variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2019 |