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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2014 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2004 | 2011 | |||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 230712433 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1 | 156114996 | synonymous variant | C/T | snv | 2.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
5 | 0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.080 | 3 | 46860813 | missense variant | G/A;C;T | snv | 7.2E-05; 1.7E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.120 | 3 | 38575424 | missense variant | G/A | snv | 1.4E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
8 | 0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.040 | 5 | 156595000 | missense variant | T/G | snv | 2.0E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 6 | 31531826 | intron variant | C/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.020 | 1.000 | 2 | 2006 | 2016 | |||
|
3 | 0.925 | 0.120 | 7 | 150951484 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 7 | 150965242 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 7 | 80661053 | intron variant | A/G | snv | 0.97 | 0.92 | 0.010 | 1.000 | 1 | 2017 | 2017 |