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 | 0.040 | 4 | 148126966 | intron variant | G/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 9 | 129176634 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.160 | 11 | 27643996 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1 | 204858913 | intron variant | C/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 43771130 | missense variant | G/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.776 | 0.280 | 9 | 22119196 | non coding transcript exon variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.040 | 10 | 118871273 | intron variant | T/C | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 7 | 100890786 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
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 | 1.000 | 0.080 | 8 | 32579499 | intron variant | C/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 5 | 76969157 | 3 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.080 | 11 | 2165105 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 9 | 133657806 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 6 | 88168233 | upstream gene variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 4 | 102532823 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 2 | 105840835 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.882 | 0.080 | 2 | 129240870 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.160 | 3 | 165773193 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |