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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 12 | 4273870 | 5 prime UTR variant | C/T | snv | 0.58 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
8 | 0.807 | 0.320 | 13 | 108285104 | intron variant | T/A | snv | 0.21 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 2 | 85694266 | intron variant | G/C | snv | 0.51 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.360 | 19 | 9834503 | non coding transcript exon variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.240 | 19 | 9838476 | synonymous variant | G/A | snv | 3.7E-02 | 6.3E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 5 | 135576874 | intron variant | G/C | snv | 0.26 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
9 | 0.776 | 0.240 | 21 | 33404389 | intron variant | A/G | snv | 0.69 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.120 | 12 | 6382781 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
10 | 0.752 | 0.240 | 14 | 56058851 | intergenic variant | G/A | snv | 0.24 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 50608362 | intron variant | C/A;G;T | snv | 5.1E-04; 0.89 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 3 | 50611939 | 5 prime UTR variant | C/G | snv | 0.85 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 10 | 52771701 | upstream gene variant | G/A | snv | 0.30 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.280 | 6 | 33087030 | 3 prime UTR variant | A/G | snv | 0.38 | 0.710 | 0.500 | 2 | 2013 | 2018 | ||||
|
12 | 0.752 | 0.440 | 13 | 108269025 | intron variant | C/T | snv | 0.35 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
11 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 0.030 | 0.667 | 3 | 2017 | 2019 | ||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.030 | 0.667 | 3 | 2011 | 2015 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.030 | 0.667 | 3 | 2016 | 2019 | |||
|
2 | 0.925 | 0.080 | 6 | 33077781 | intron variant | G/A | snv | 0.32 | 0.710 | 0.667 | 3 | 2009 | 2016 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.080 | 0.750 | 8 | 2011 | 2017 |