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 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 1220674 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.020 | < 0.001 | 2 | 2014 | 2017 | ||||||||
|
0.882 | 0.080 | 19 | 6746039 | missense variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||||
|
0.882 | 0.080 | 12 | 130739483 | intergenic variant | T/C | snv | 0.97 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 3 | 50331654 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.807 | 0.120 | 6 | 52243264 | intron variant | G/A | snv | 0.75 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 17 | 69955727 | intergenic variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 6 | 31271730 | missense variant | G/C | snv |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||||
|
0.776 | 0.120 | 20 | 33676869 | missense variant | C/T | snv | 1.9E-02; 5.1E-06 | 1.8E-02 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 9 | 87640345 | missense variant | T/C | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.851 | 0.080 | 22 | 37665657 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.200 | 10 | 129766957 | missense variant | C/T | snv | 2.0E-05 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 5 | 112838623 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.080 | 5 | 112838434 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.050 | 0.200 | 5 | 2012 | 2017 | ||||||||
|
0.882 | 0.080 | 17 | 61679808 | 3 prime UTR variant | T/A;C | snv |
|
0.020 | 0.500 | 2 | 2013 | 2016 | |||||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.020 | 0.500 | 2 | 2017 | 2019 | ||||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
0.020 | 0.500 | 2 | 2012 | 2016 | ||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 0.500 | 2 | 2011 | 2018 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 0.500 | 2 | 2005 | 2013 | |||||||
|
0.827 | 0.120 | 17 | 61863458 | 5 prime UTR variant | C/T | snv | 0.42 |
|
0.020 | 0.500 | 2 | 2016 | 2018 |