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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 19 | 582253 | intron variant | T/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 7 | 74083398 | intron variant | A/G | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.160 | 9 | 22061615 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2008 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 102408461 | intron variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 19 | 15160960 | missense variant | G/A | snv | 0.71 | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 19 | 3626924 | upstream gene variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
8 | 0.776 | 0.280 | 19 | 3595796 | missense variant | A/G | snv | 0.56 | 0.66 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 21 | 45531642 | synonymous variant | A/G | snv | 0.58 | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.200 | 11 | 119182117 | missense variant | C/A | snv | 0.56 | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.160 | 4 | 24795181 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
13 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 13 | 30745981 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 13 | 30732134 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 22 | 37576621 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.827 | 0.160 | 1 | 173187153 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 13 | 30735693 | intron variant | C/A | snv | 0.41 | 0.47 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 |