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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 5 | 160232266 | missense variant | C/T | snv | 0.44 | 0.43 | 0.020 | 1.000 | 2 | 2007 | 2009 | |||
|
1 | 1.000 | 0.080 | 5 | 134142855 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||
|
1 | 1.000 | 0.080 | 10 | 112978018 | intron variant | C/T | snv | 5.8E-03 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 136357696 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 7509542 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 45898159 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | 8 | 37001668 | intergenic variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 91000846 | non coding transcript exon variant | A/G | snv | 0.46 | 0.800 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.080 | 15 | 77489993 | upstream gene variant | A/G | snv | 0.63 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 7042968 | missense variant | T/C | snv | 8.2E-02 | 0.13 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
1 | 1.000 | 0.080 | 13 | 27924439 | missense variant | G/A | snv | 0.720 | 1.000 | 2 | 1999 | 2002 | |||||
|
1 | 1.000 | 0.080 | 3 | 186854691 | missense variant | A/C | snv | 3.9E-04 | 1.8E-04 | 0.020 | < 0.001 | 2 | 2010 | 2014 | |||
|
1 | 1.000 | 0.080 | 9 | 21974791 | missense variant | C/A;G | snv | 4.3E-06 | 0.020 | 0.500 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 14751196 | missense variant | C/T | snv | 3.1E-03 | 3.3E-03 | 0.700 | 1.000 | 2 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 12 | 121903049 | missense variant | A/G | snv | 1.8E-03 | 1.3E-03 | 0.020 | 1.000 | 2 | 2007 | 2014 | |||
|
1 | 1.000 | 0.080 | 19 | 47341497 | missense variant | C/T | snv | 4.7E-04 | 1.5E-04 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 135435884 | intron variant | A/G | snv | 0.76 | 0.710 | 0.500 | 2 | 2007 | 2008 | ||||
|
1 | 1.000 | 0.080 | 9 | 22301093 | intergenic variant | T/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 2799835 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 2817183 | intron variant | T/C | snv | 0.45 | 0.810 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 16 | 81455768 | intron variant | C/T | snv | 3.6E-02 | 0.810 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 79290675 | intergenic variant | A/G | snv | 6.2E-02 | 0.800 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.080 | 16 | 79373021 | regulatory region variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 17387284 | missense variant | G/C;T | snv | 4.0E-02; 2.8E-05 | 0.020 | 0.500 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.080 | 4 | 6300792 | missense variant | G/A;C;T | snv | 0.78 | 0.700 | 1.000 | 2 | 2018 | 2019 |