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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.280 | 6 | 32623148 | TF binding site variant | G/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.240 | 6 | 32441753 | intron variant | G/A | snv | 0.56 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 31138491 | non coding transcript exon variant | A/C;G | snv | 8.1E-06; 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 6 | 106237320 | intron variant | G/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.240 | 1 | 173257056 | intergenic variant | T/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 15 | 75132252 | intergenic variant | A/C | snv | 0.71 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 2 | 191075725 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.280 | 6 | 32251212 | upstream gene variant | G/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.120 | 5 | 151081488 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.160 | 6 | 33075103 | intron variant | A/G | snv | 0.19 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.760 | 0.857 | 7 | 2006 | 2019 | |||
|
6 | 0.807 | 0.160 | 3 | 58197909 | missense variant | G/A;C | snv | 4.8E-02; 4.0E-06 | 0.710 | 1.000 | 4 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.120 | 17 | 39965740 | missense variant | G/A | snv | 0.46 | 0.41 | 0.710 | 1.000 | 2 | 2017 | 2018 | |||
|
3 | 0.882 | 0.200 | 6 | 33107858 | upstream gene variant | A/G | snv | 0.28 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 6 | 33107889 | upstream gene variant | C/T | snv | 0.31 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.280 | 6 | 33088122 | 3 prime UTR variant | G/A | snv | 0.14 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
5 | 0.827 | 0.120 | 2 | 191057148 | intron variant | C/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 75228544 | 5 prime UTR variant | G/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 213064562 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 59042487 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 32183445 | splice region variant | G/A | snv | 0.24 | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.160 | 7 | 128949579 | 3 prime UTR variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 19 | 10351837 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 |