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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2005 | 2005 | |||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
4 | 0.925 | 0.160 | 15 | 30942802 | 3 prime UTR variant | G/C | snv | 0.27 | 0.020 | 1.000 | 2 | 2016 | 2020 | ||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 4 | 3107715 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
12 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.240 | 9 | 134340689 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 124093989 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 4 | 3274764 | downstream gene variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 3223751 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 2479763 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 4 | 3289674 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 17 | 42818395 | missense variant | T/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 4 | 3150086 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 3131662 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 5 | 80619201 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 4 | 3418113 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 16455781 | regulatory region variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.160 | 16 | 86532210 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |