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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.827 | 0.160 | 8 | 103141321 | non coding transcript exon variant | G/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2007 | 2012 | |||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2002 | 2018 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
14 | 0.716 | 0.440 | 8 | 18400344 | missense variant | T/C | snv | 0.38 | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.776 | 0.240 | 8 | 18400484 | synonymous variant | C/T | snv | 0.36 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
14 | 0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
6 | 0.807 | 0.240 | 6 | 26091479 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
12 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
8 | 0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
12 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 |