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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.810 | 0.500 | 2 | 2012 | 2017 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.810 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 104028030 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 35534425 | TF binding site variant | T/C | snv | 0.85 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 10 | 69828748 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 4 | 168488807 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 7 | 35515178 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 21 | 43348682 | intergenic variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 12 | 9218736 | intergenic variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 11 | 65582285 | missense variant | T/G | snv | 0.47 | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 12 | 3648382 | 3 prime UTR variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.200 | 2 | 222613892 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 2 | 222642894 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 2 | 222631635 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.827 | 0.280 | 2 | 222623699 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 2 | 222631606 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.240 | 13 | 51949798 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
15 | 0.763 | 0.200 | 10 | 58390856 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.100 | 0.970 | 33 | 2000 | 2018 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 0.862 | 29 | 2011 | 2019 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 1.000 | 14 | 2011 | 2018 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.100 | 0.909 | 11 | 2001 | 2017 | |||
|
13 | 0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 | 0.050 | 1.000 | 5 | 2016 | 2019 |