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 | 18 | 60371856 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 2000 | 2014 | |||
|
1 | 1.000 | 0.080 | 7 | 128254568 | missense variant | C/A;T | snv | 2.0E-05; 1.8E-03 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 16 | 54286285 | 5 prime UTR variant | G/T | snv | 0.28 | 0.030 | 1.000 | 3 | 2016 | 2020 | ||||
|
1 | 1.000 | 0.080 | 7 | 128723233 | missense variant | G/A | snv | 0.20 | 0.18 | 0.030 | 1.000 | 3 | 2008 | 2018 | |||
|
1 | 1.000 | 0.080 | 5 | 71719903 | missense variant | G/C | snv | 1.3E-04 | 6.3E-05 | 0.720 | 1.000 | 2 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 16 | 79648854 | regulatory region variant | T/C | snv | 0.44 | 0.810 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 53837894 | intron variant | T/G | snv | 0.27 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.080 | 16 | 28496323 | missense variant | C/G | snv | 0.36 | 0.40 | 0.020 | 0.500 | 2 | 2013 | 2015 | |||
|
1 | 1.000 | 0.080 | 9 | 104882799 | intron variant | C/T | snv | 0.28 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 89673865 | intron variant | C/T | snv | 0.54 | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.080 | 9 | 104837887 | intron variant | A/G | snv | 0.47 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 5 | 180779656 | intergenic variant | A/G | snv | 0.41 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 3113045 | intron variant | A/G;T | snv | 0.020 | < 0.001 | 2 | 2007 | 2008 | |||||
|
1 | 1.000 | 0.080 | 2 | 25164690 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 209693771 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 5 | 180777104 | intergenic variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 18 | 77089350 | intron variant | C/A | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 9827538 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 6 | 36755065 | non coding transcript exon variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 212620271 | 3 prime UTR variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 442384 | 3 prime UTR variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 16 | 6114477 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 8 | 70348097 | intron variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 16 | 53529332 | intergenic variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 120394556 | 3 prime UTR variant | T/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 |