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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 8 | 104014559 | missense variant | C/G | snv | 4.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.120 | 11 | 108304736 | missense variant | A/T | snv | 4.9E-03 | 4.4E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.020 | 1.000 | 2 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.120 | 6 | 111374684 | missense variant | G/A | snv | 0.72 | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.020 | 1.000 | 2 | 2002 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 112490080 | intron variant | C/T | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 5 | 112819214 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
29 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 117717932 | 3 prime UTR variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 0.833 | 6 | 2005 | 2017 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2015 | |||
|
10 | 0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
33 | 0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 7 | 122993419 | downstream gene variant | A/G | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 0.500 | 2 | 2005 | 2010 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 0.500 | 2 | 2005 | 2010 | |||||
|
1 | 1.000 | 0.080 | 3 | 126651323 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 126654076 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 8 | 127021159 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.080 | 5 | 1299910 | upstream gene variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 |