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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.900 | 0.950 | 20 | 2009 | 2019 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.890 | 0.933 | 15 | 2005 | 2019 | |||
|
2 | 0.925 | 0.120 | 19 | 44904531 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2019 | |||||
|
6 | 0.882 | 0.120 | 19 | 44905371 | upstream gene variant | T/C | snv | 7.0E-02 | 0.740 | 1.000 | 5 | 2009 | 2018 | ||||
|
2 | 0.925 | 0.120 | 19 | 44905307 | upstream gene variant | A/T | snv | 0.21 | 0.730 | 1.000 | 4 | 2009 | 2018 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.720 | 1.000 | 5 | 2011 | 2019 | |||
|
1 | 1.000 | 0.080 | 19 | 44909698 | non coding transcript exon variant | A/C | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
11 | 0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
5 | 0.925 | 0.120 | 19 | 44907187 | non coding transcript exon variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 19 | 44907853 | missense variant | T/C | snv | 2.5E-03 | 1.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.160 | 19 | 44905894 | missense variant | G/C | snv | 7.0E-06 | 0.020 | < 0.001 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 44907789 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2006 | 2008 | |||||
|
4 | 0.882 | 0.160 | 19 | 44909013 | missense variant | G/A | snv | 1.5E-05 | 0.020 | 1.000 | 2 | 2000 | 2012 | ||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 19 | 44908634 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 19 | 44906634 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 44908639 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 19 | 44908741 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.160 | 19 | 44909057 | missense variant | T/A | snv | 4.5E-04 | 4.9E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
8 | 0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 44907768 | missense variant | G/A;C | snv | 1.8E-04; 8.2E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 19 | 44908729 | missense variant | G/A;C;T | snv | 6.3E-06; 6.3E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
4 | 0.851 | 0.280 | 19 | 44908681 | missense variant | G/A;C | snv | 2.3E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 19 | 44908936 | missense variant | G/A | snv | 8.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 19 | 44908847 | missense variant | C/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 |