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 | 0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 4 | 170014094 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 20 | 3074867 | downstream gene variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.827 | 0.240 | 22 | 19962429 | 5 prime UTR variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 8 | 124855801 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.200 | 4 | 9934286 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.200 | 22 | 19962641 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.882 | 0.200 | 22 | 19962797 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
2 | 1.000 | 0.040 | 5 | 37817242 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 11 | 83565125 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 0.070 | 1.000 | 7 | 2011 | 2017 | |||
|
8 | 0.827 | 0.120 | 7 | 87544351 | intron variant | A/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.030 | 1.000 | 3 | 2015 | 2016 | |||
|
7 | 0.827 | 0.120 | 20 | 3072609 | downstream gene variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 11 | 27674363 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.851 | 0.080 | X | 151177387 | non coding transcript exon variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.080 | 12 | 71942989 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |