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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 11 | 2003 | 2013 | |||||
|
4 | 0.851 | 0.080 | 14 | 23425403 | missense variant | C/G;T | snv | 0.700 | 1.000 | 10 | 2003 | 2015 | |||||
|
2 | 0.925 | 0.040 | 14 | 23424935 | missense variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2008 | 2017 | |||||
|
1 | 1.000 | 0.040 | 19 | 55151893 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
5 | 0.827 | 0.120 | 19 | 55154070 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||
|
1 | 1.000 | 0.040 | 7 | 128854578 | missense variant | C/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 128857244 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 14 | 23417573 | missense variant | A/G | snv | 4.4E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.807 | 0.080 | 19 | 55154071 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 1 | 201365292 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
27 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 128854577 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 14 | 23429329 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 55154057 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.120 | 19 | 55154146 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
4 | 0.882 | 0.040 | 11 | 111908966 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.827 | 0.160 | 7 | 128845022 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.040 | 7 | 128845012 | missense variant | GC/CT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 6 | 38723373 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 201364349 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 10 | 68165803 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 1 | 201368212 | missense variant | G/A;T | snv | 4.5E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.080 | 3 | 52451410 | missense variant | G/A;C;T | snv | 4.0E-05; 4.0E-06; 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 |