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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 0.667 | 3 | 2009 | 2012 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 1 | 173185165 | 3 prime UTR variant | G/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 2 | 1492028 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 2 | 1412867 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.200 | 2 | 178112712 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 3 | 119435715 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 24127628 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 3 | 119455829 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 4 | 76007275 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.200 | 6 | 137876194 | intron variant | A/C | snv | 0.62 | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 8 | 132888141 | synonymous variant | T/C | snv | 0.58 | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.827 | 0.160 | 8 | 132971813 | missense variant | C/T | snv | 0.31 | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 8 | 49074671 | 3 prime UTR variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 |