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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 7 | 50414314 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 7 | 50497706 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.030 | 1.000 | 3 | 2003 | 2012 | ||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.160 | 9 | 130872901 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.810 | 1.000 | 5 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 61965014 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50479227 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 6 | 18121083 | 3 prime UTR variant | C/T | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.120 | 10 | 22551654 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50410929 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.200 | 6 | 140848688 | intron variant | A/G | snv | 8.5E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 77367618 | missense variant | C/A;G;T | snv | 4.0E-06; 1.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 7 | 50499737 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 7 | 50456510 | intron variant | C/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.120 | 7 | 50406065 | downstream gene variant | A/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 | 0.810 | 1.000 | 5 | 2009 | 2019 |