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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.050 | 1.000 | 5 | 2009 | 2017 | ||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.030 | 1.000 | 3 | 2006 | 2019 | ||||
|
4 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.020 | 0.500 | 2 | 2010 | 2010 | ||||
|
3 | 2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1 | 11790755 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 2 | 219218640 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 0.882 | 0.120 | 16 | 55810697 | intron variant | G/A;T | snv | 8.0E-06; 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
15 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 14 | 103708630 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 87549387 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 4 | 69108277 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
7 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 |