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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.240 | 5 | 96786506 | missense variant | C/T | snv | 0.15 | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 8 | 142915715 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 0.827 | 0.120 | 9 | 21853340 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1 | 151368294 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
9 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 1.000 | 0.040 | 4 | 148126966 | intron variant | G/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 2 | 31335440 | 3 prime UTR variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 17 | 63487006 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.120 | 8 | 26770511 | missense variant | A/G | snv | 0.52 | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.120 | 1 | 169793666 | missense variant | T/A;G | snv | 4.1E-06; 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.040 | 3 | 10146549 | missense variant | G/A;C;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 5 | 143282714 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.240 | 10 | 102830946 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 17 | 10978681 | intergenic variant | T/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 5 | 111436706 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 0.851 | 0.040 | 10 | 122461754 | synonymous variant | C/T | snv | 0.32 | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.080 | 4 | 121696891 | 5 prime UTR variant | A/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 |