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 | 0.925 | 0.080 | 1 | 186673297 | 3 prime UTR variant | A/G | snv | 0.95 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 0.040 | 1.000 | 4 | 2010 | 2018 | |||
|
2 | 1.000 | 0.040 | 21 | 37714662 | synonymous variant | T/C | snv | 0.80 | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 19 | 21483408 | non coding transcript exon variant | C/T | snv | 0.77 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 22 | 19976143 | intron variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 46429969 | upstream gene variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 1.000 | 0.080 | 3 | 38725824 | intron variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 6 | 16362511 | intron variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 46420268 | TF binding site variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 13 | 95283335 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 69081680 | intron variant | T/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
5 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.020 | 1.000 | 2 | 2018 | 2018 | |||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.030 | 1.000 | 3 | 2010 | 2020 | ||||
|
4 | 0.882 | 0.080 | 22 | 21850504 | intron variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 1.000 | 2 | 2009 | 2014 | |||
|
8 | 0.807 | 0.320 | 11 | 113410675 | 3 prime UTR variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 10 | 99798989 | intron variant | G/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 33013514 | upstream gene variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 76962223 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
14 | 0.742 | 0.320 | 12 | 68156382 | intron variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 |