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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.020 | 1.000 | 2 | 2009 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 67348757 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
3 | 0.882 | 0.120 | 17 | 39965740 | missense variant | G/A | snv | 0.46 | 0.41 | 0.710 | 1.000 | 2 | 2017 | 2018 | |||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.020 | 0.500 | 2 | 2011 | 2016 | ||||
|
4 | 0.851 | 0.200 | 6 | 32222629 | synonymous variant | A/G | snv | 0.38 | 0.39 | 0.800 | 1.000 | 2 | 2010 | 2011 | |||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
19 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
11 | 0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
6 | 0.807 | 0.280 | 1 | 173254724 | regulatory region variant | G/A | snv | 0.46 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
3 | 0.882 | 0.120 | 6 | 32701379 | downstream gene variant | T/C | snv | 0.30 | 0.800 | 1.000 | 2 | 2010 | 2011 | ||||
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 17 | 75228544 | 5 prime UTR variant | G/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 2 | 11268891 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 2 | 213064562 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 59042487 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 32183445 | splice region variant | G/A | snv | 0.24 | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 19 | 35345627 | missense variant | G/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 19 | 35345923 | intron variant | C/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 19 | 35333116 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 219833404 | intergenic variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 6 | 137811379 | intergenic variant | T/G | snv | 2.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 12 | 5043783 | upstream gene variant | C/T | snv | 0.88 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 |