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 | 0.851 | 0.160 | 2 | 113130095 | non coding transcript exon variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 1 | 159302270 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.160 | 1 | 159288755 | upstream gene variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.120 | 16 | 27360785 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 5 | 110854353 | intergenic variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.080 | 4 | 122432277 | downstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 4 | 38811255 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 2 | 102343750 | 3 prime UTR variant | T/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 8 | 127802783 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.320 | 6 | 32658534 | upstream gene variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 6 | 31386405 | upstream gene variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 3 | 188354725 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 7 | 150566901 | upstream gene variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 7 | 150737384 | 5 prime UTR variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.200 | 5 | 111073450 | 5 prime UTR variant | C/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 1 | 152307488 | synonymous variant | C/A;T | snv | 8.0E-06; 2.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 9 | 6242950 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 |