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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 12 | 6013630 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 12 | 5976158 | missense variant | G/A | snv | 8.0E-05 | 1.3E-04 | 0.700 | 1.000 | 3 | 2007 | 2009 | |||
|
2 | 0.925 | 0.080 | 12 | 5983175 | synonymous variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2016 | ||||
|
3 | 0.882 | 0.080 | 12 | 6019303 | missense variant | A/C | snv | 3.2E-05 | 3.5E-05 | 0.710 | 1.000 | 2 | 2007 | 2019 | |||
|
2 | 0.925 | 0.080 | 12 | 6018506 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 12 | 6018476 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 12 | 6044430 | missense variant | C/T | snv | 5.6E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2008 | 2016 | |||
|
2 | 0.925 | 0.080 | 12 | 6022889 | missense variant | C/A | snv | 0.020 | 1.000 | 2 | 2008 | 2011 | |||||
|
2 | 0.925 | 0.080 | 12 | 6022833 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2009 | 2017 | |||||
|
9 | 0.807 | 0.080 | 12 | 6019472 | missense variant | C/G;T | snv | 4.0E-06 | 0.740 | 1.000 | 5 | 2010 | 2019 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 12 | 6034813 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 12 | 6019501 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 133458978 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 12 | 5949139 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 12 | 6019004 | missense variant | C/A;G;T | snv | 2.7E-04; 0.12; 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 12 | 6036483 | missense variant | A/T | snv | 8.7E-03 | 3.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 12 | 5953560 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 12 | 6022740 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2016 | 2018 | |||||
|
1 | 1.000 | 0.080 | X | 154930252 | missense variant | C/T | snv | 2.2E-05 | 7.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.925 | 0.080 | 12 | 6019297 | missense variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2017 | 2019 | |||||
|
1 | 1.000 | 0.080 | 12 | 6018901 | missense variant | G/A | snv | 0.710 | 1.000 | 2 | 2017 | 2019 |