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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 1 | 182052148 | downstream gene variant | C/T | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 2 | 161172602 | intron variant | T/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.120 | 8 | 95011854 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 1.000 | 13 | 93226778 | non coding transcript exon variant | A/G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.240 | 6 | 36030611 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 1.000 | 2 | 194682669 | intergenic variant | G/A | snv | 0.94 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 2 | 194695273 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 1.000 | 0.080 | 16 | 70741552 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 6 | 221146 | intergenic variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 2 | 49270867 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 3 | 66395177 | intron variant | A/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 12 | 2008 | 2020 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.040 | 0.500 | 4 | 2006 | 2013 | |||
|
9 | 0.827 | 0.120 | 17 | 15231047 | missense variant | G/A | snv | 4.0E-03 | 3.7E-03 | 0.030 | 1.000 | 3 | 2003 | 2011 | |||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2019 | |||
|
9 | 0.790 | 0.080 | 17 | 15239575 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 1998 | 1999 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
5 | 0.851 | 0.080 | 1 | 161306864 | missense variant | G/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
4 | 0.925 | 0.080 | 8 | 24953776 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2004 | 2015 | |||||
|
3 | 0.925 | 0.080 | 4 | 65332086 | synonymous variant | C/A;T | snv | 0.35 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 14 | 30885890 | missense variant | C/G | snv | 0.56 | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 8 | 74362940 | stop gained | C/G | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
8 | 0.790 | 0.080 | 8 | 74361886 | stop gained | C/T | snv | 7.6E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 |