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 | 1.000 | 0.080 | 7 | 100890100 | 3 prime UTR variant | G/T | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 7 | 100890786 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 16 | 10174473 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.827 | 0.360 | 12 | 111766623 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.200 | 12 | 111791045 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 12 | 111797979 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
2 | 6 | 154039650 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.060 | 1.000 | 6 | 2005 | 2018 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2010 | 2013 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 31577384 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 31583538 | missense variant | G/A | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
1 | 12 | 63144866 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 20 | 64092838 | missense variant | G/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 74752059 | intron variant | G/C | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 20 | 8884359 | 3 prime UTR variant | C/T | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 |