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 | 0.925 | 0.120 | 11 | 118709156 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.120 | 11 | 118741072 | intron variant | G/A;T | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 11 | 118771376 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.882 | 0.120 | 11 | 128455658 | downstream gene variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 203764087 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
4 | 0.882 | 3 | 192909627 | intron variant | G/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 9 | 124236874 | intergenic variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 11 | 11114248 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.851 | 0.040 | 15 | 38555562 | intron variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 19 | 18287818 | upstream gene variant | G/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.160 | 16 | 85985910 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 1 | 150869191 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.200 | 1 | 236537507 | missense variant | T/A | snv | 0.61 | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.160 | 11 | 128459064 | 3 prime UTR variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.925 | 0.160 | 12 | 56042145 | 5 prime UTR variant | C/A;G;T | snv | 8.0E-06; 8.0E-06; 0.62; 1.1E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.160 | 3 | 119431989 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 |