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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 18 | 659236 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 18 | 662103 | intron variant | G/A | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 18 | 666371 | intron variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 16 | 24906679 | missense variant | A/G | snv | 1.2E-03 | 7.9E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 16 | 24908983 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 16 | 24891045 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 2 | 74233777 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.080 | 9 | 133671511 | intron variant | G/A;C | snv | 0.53; 1.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 43143543 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.160 | 9 | 95447312 | missense variant | G/A;C;T | snv | 0.39; 1.2E-05; 4.1E-06 | 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 | ||||
|
1 | 1.000 | 0.080 | 3 | 196238244 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 149793609 | missense variant | G/A | snv | 0.46 | 0.53 | 0.020 | 1.000 | 2 | 2006 | 2012 | |||
|
1 | 1.000 | 0.080 | 6 | 149811183 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 222299799 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 114312721 | 3 prime UTR variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 11 | 114312587 | 3 prime UTR variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 14 | 36581342 | missense variant | C/T | snv | 9.1E-04 | 4.2E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 |