Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
0.700 | 1.000 | 26 | 1985 | 2017 | |||||||||
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
0.700 | 1.000 | 26 | 1985 | 2017 | |||||||||
|
1.000 | 10 | 121517425 | splice acceptor variant | CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- | delins |
|
0.700 | 1.000 | 26 | 1985 | 2017 | ||||||||||
|
0.851 | 0.080 | 10 | 121498520 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 4 | 2008 | 2013 | |||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.851 | 0.160 | 10 | 121498522 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 10 | 121488002 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 10 | 121496546 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 10 | 121496705 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 10 | 121498528 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 10 | 121498556 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 10 | 121498562 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 10 | 121496701 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |