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 | 0.925 | 0.160 | 6 | 43770758 | missense variant | C/G;T | snv | 2.0E-05; 9.8E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.925 | 0.160 | 5 | 53048731 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.240 | 14 | 102229508 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 13 | 75609137 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 13 | 75595641 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 13 | 96299179 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 13 | 75569436 | non coding transcript exon variant | T/A;C | snv | 4.5E-06; 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 75601390 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.807 | 0.280 | 11 | 67479201 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 1 | 18468761 | regulatory region variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | 1 | 165419892 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 4 | 161329780 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 244013122 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.360 | 1 | 169593666 | synonymous variant | C/A;T | snv | 2.8E-05; 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 13 | 75597086 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |