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 | 7 | 99768693 | intron variant | G/A | snv | 3.2E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 15 | 99690400 | missense variant | C/T | snv | 6.1E-04 | 6.5E-04 | 0.020 | 0.500 | 2 | 2006 | 2008 | |||
|
4 | 0.851 | 0.080 | 14 | 99667605 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.160 | 2 | 96115728 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 12 | 96036005 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 12 | 96028599 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 13 | 96019856 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.827 | 0.240 | 7 | 95411704 | missense variant | G/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
24 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 0.020 | 1.000 | 2 | 2004 | 2007 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.030 | 1.000 | 3 | 2004 | 2016 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.070 | 0.857 | 7 | 2000 | 2010 | |||
|
1 | 1.000 | 0.080 | 10 | 95037104 | 3 prime UTR variant | G/A | snv | 0.22 | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.120 | 1 | 94542362 | upstream gene variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 1 | 94541666 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 1 | 94531732 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 1 | 94530263 | 3 prime UTR variant | C/A;G;T | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 1 | 94527220 | downstream gene variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.827 | 0.160 | 7 | 94413927 | missense variant | C/A;G;T | snv | 8.0E-06; 0.77; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 9 | 93301408 | intron variant | T/G | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 14 | 92946398 | synonymous variant | G/A | snv | 8.4E-02 | 7.3E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.925 | 0.080 | 15 | 90894158 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 89905937 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 |