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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.810 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.040 | 5 | 1446274 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
2 | 1.000 | 0.040 | 5 | 1412530 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
6 | 0.827 | 0.080 | 16 | 55652906 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
1 | 1.000 | 0.040 | 16 | 55697132 | intron variant | G/A | snv | 3.6E-02 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 7625097 | intron variant | C/T | snv | 0.15 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 117313620 | intron variant | G/A | snv | 0.35 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 15 | 47438673 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 20 | 10307094 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.040 | 7 | 73712768 | intron variant | G/A | snv | 2.1E-02 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
8 | 0.776 | 0.160 | 6 | 38398097 | intron variant | T/C | snv | 0.38 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 61608511 | intron variant | C/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 165411386 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 13 | 108163877 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 5 | 36686784 | 3 prime UTR variant | A/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 84412778 | intron variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 10 | 52014152 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 52017283 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 10 | 52019720 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 28966665 | intergenic variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 |