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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 7 | 140781602 | missense variant | CC/AA;GA | mnv | 0.700 | 1.000 | 9 | 2002 | 2013 | |||||
|
2 | 1.000 | 0.080 | 7 | 140781593 | missense variant | T/C | snv | 0.700 | 1.000 | 8 | 2002 | 2013 | |||||
|
5 | 0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 | 0.750 | 1.000 | 7 | 2011 | 2019 | ||||
|
4 | 0.851 | 0.080 | 19 | 45406676 | 5 prime UTR variant | G/A;C;T | snv | 0.22; 6.7E-06 | 0.060 | 1.000 | 6 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 2918030 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 5 | 2013 | 2014 | ||||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||
|
10 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 0.040 | 1.000 | 4 | 2009 | 2014 | |||||
|
8 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2008 | 2014 | |||
|
6 | 0.851 | 0.080 | 13 | 91792975 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2010 | 2015 | |||||
|
7 | 0.851 | 0.080 | 15 | 78533838 | 3 prime UTR variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
4 | 0.851 | 0.080 | 15 | 90085305 | synonymous variant | G/A;C | snv | 3.5E-02; 6.4E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
3 | 0.882 | 0.080 | 2 | 174396420 | intron variant | T/C | snv | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
3 | 0.882 | 0.080 | 19 | 48128151 | intron variant | C/T | snv | 0.29 | 0.020 | 0.500 | 2 | 2008 | 2015 | ||||
|
12 | 0.851 | 0.080 | 15 | 78559273 | regulatory region variant | G/A | snv | 0.29 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
3 | 0.882 | 0.080 | 19 | 48165573 | 5 prime UTR variant | G/A;C | snv | 0.13 | 0.020 | 0.500 | 2 | 2008 | 2015 | ||||
|
4 | 0.851 | 0.080 | 8 | 133207034 | intron variant | G/C | snv | 0.36 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.882 | 0.080 | 19 | 48143984 | intron variant | T/C | snv | 0.12 | 0.15 | 0.020 | 0.500 | 2 | 2008 | 2015 | |||
|
3 | 0.882 | 0.080 | 19 | 48165657 | intron variant | T/C | snv | 5.6E-02 | 9.6E-02 | 0.020 | 0.500 | 2 | 2008 | 2015 | |||
|
7 | 0.851 | 0.080 | 15 | 78565644 | 5 prime UTR variant | C/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
10 | 0.807 | 0.080 | 19 | 40847202 | intron variant | T/C | snv | 0.52 | 0.710 | 1.000 | 2 | 2016 | 2017 | ||||
|
4 | 0.882 | 0.080 | 17 | 3872554 | missense variant | T/C | snv | 0.45 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
3 | 0.882 | 0.080 | 2 | 173118476 | intron variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2017 | 2018 | |||||
|
4 | 0.851 | 0.080 | 3 | 189630622 | upstream gene variant | G/A | snv | 0.13 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
3 | 0.882 | 0.080 | 7 | 55027504 | intron variant | A/G | snv | 0.59 | 0.020 | 1.000 | 2 | 2009 | 2015 |