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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.925 | 0.120 | 4 | 99144358 | intron variant | T/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 1.000 | 0.080 | 21 | 37665865 | intron variant | T/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37631223 | intron variant | T/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 113420621 | intron variant | T/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.080 | 21 | 37680353 | intron variant | T/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 13302595 | intron variant | T/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 21 | 37616021 | 3 prime UTR variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.240 | 4 | 102607651 | splice region variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 21 | 37629311 | intron variant | T/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.900 | 1.000 | 19 | 2004 | 2019 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 1.000 | 0.080 | 15 | 92501109 | non coding transcript exon variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.050 | 1.000 | 5 | 2012 | 2016 | |||
|
5 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 0.040 | 0.750 | 4 | 2010 | 2017 | ||||
|
2 | 0.925 | 0.080 | 8 | 11754872 | intron variant | T/C | snv | 0.34 | 0.030 | 0.667 | 3 | 2014 | 2016 | ||||
|
4 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
4 | 0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.080 | 20 | 1991814 | intron variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.020 | 0.500 | 2 | 2015 | 2020 | ||||
|
2 | 1.000 | 0.080 | 4 | 99144933 | intron variant | T/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 5 | 161471322 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 |