Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2013 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
14 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 1 | 45340381 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 2 | 31362783 | intron variant | G/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.807 | 0.200 | 3 | 10149805 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.827 | 0.160 | 4 | 24795181 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 9 | 21971097 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 9 | 22006096 | missense variant | C/G;T | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
23 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 10 | 21494705 | non coding transcript exon variant | G/A | snv | 0.24 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
5 | 0.882 | 0.080 | 10 | 21541175 | intron variant | A/G | snv | 0.31 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.160 | 10 | 21626690 | intron variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 |