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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 19 | 48668049 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 80781309 | intron variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 11790755 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 219218640 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 233669782 | intron variant | C/T | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 206480926 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
1 | 5 | 80764197 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 48700572 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 103708630 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 5 | 80669717 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
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 | |||||||
|
1 | 19 | 48665685 | intron variant | G/A | snv | 0.32 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 73040138 | intron variant | A/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.050 | 1.000 | 5 | 2009 | 2017 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 |