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 | 0.100 | 0.914 | 70 | 1997 | 2017 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.849 | 53 | 1998 | 2019 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.900 | 0.944 | 36 | 2007 | 2019 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.100 | 0.889 | 27 | 1998 | 2019 | |||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.100 | 0.958 | 24 | 2008 | 2019 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.800 | 0.900 | 20 | 1997 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.800 | 15 | 2001 | 2020 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.100 | 0.923 | 13 | 2006 | 2019 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.100 | 0.917 | 12 | 2005 | 2015 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 1.000 | 12 | 2005 | 2017 | |||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.890 | 1.000 | 12 | 2007 | 2019 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.100 | 1.000 | 12 | 2000 | 2019 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.100 | 1.000 | 11 | 2009 | 2019 | ||||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.100 | 1.000 | 11 | 2003 | 2019 | |||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.760 | 1.000 | 11 | 2015 | 2019 | ||||
|
12 | 0.763 | 0.160 | 6 | 39357302 | missense variant | A/G | snv | 0.41 | 0.49 | 0.100 | 0.900 | 10 | 2007 | 2018 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.100 | 0.900 | 10 | 2007 | 2016 | |||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.100 | 1.000 | 10 | 2008 | 2019 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.100 | 0.900 | 10 | 2014 | 2019 | |||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.100 | 1.000 | 10 | 2008 | 2017 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.100 | 1.000 | 10 | 2010 | 2018 | |||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.090 | 1.000 | 9 | 2012 | 2019 | |||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.090 | 1.000 | 9 | 1998 | 2018 | |||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.090 | 1.000 | 9 | 2008 | 2019 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.090 | 0.778 | 9 | 1997 | 2018 |