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 | 0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 8 | 2007 | 2019 | |||||
|
7 | 0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 | 0.800 | 1.000 | 8 | 2009 | 2019 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 7 | 2009 | 2019 | ||||
|
5 | 1.000 | 0.080 | 12 | 120983004 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.080 | 1 | 159721769 | intergenic variant | G/A | snv | 0.32 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
7 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 6 | 2008 | 2019 | |||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 5 | 2012 | 2014 | ||||
|
2 | 1.000 | 0.120 | 1 | 159722747 | intergenic variant | T/A | snv | 0.15 | 0.800 | 1.000 | 5 | 2012 | 2015 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 5 | 2011 | 2019 | |||
|
6 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 0.800 | 1.000 | 5 | 2012 | 2019 | |||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 5 | 2008 | 2019 | |||
|
8 | 1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 | 0.800 | 1.000 | 5 | 2011 | 2019 | ||||
|
4 | 0.882 | 0.160 | 12 | 120965921 | splice region variant | G/A | snv | 0.59 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||
|
3 | 12 | 121001630 | 3 prime UTR variant | G/A | snv | 0.31 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||||
|
1 | 1 | 159706381 | upstream gene variant | T/C | snv | 5.6E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
21 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 0.800 | 1.000 | 4 | 2011 | 2019 | |||
|
1 | 1 | 159719598 | intergenic variant | T/A | snv | 0.32 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||||
|
8 | 0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
8 | 0.925 | 0.160 | 12 | 120986153 | intron variant | C/T | snv | 0.62 | 0.800 | 1.000 | 4 | 2013 | 2019 | ||||
|
2 | 1 | 159706221 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||||
|
3 | 0.925 | 0.160 | 1 | 159707006 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2008 | 2018 | |||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.160 | 12 | 120965129 | intron variant | C/T | snv | 0.28 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 159705143 | non coding transcript exon variant | C/T | snv | 0.34 | 0.800 | 1.000 | 4 | 2012 | 2019 |