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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.200 | 9 | 32973507 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.040 | 12 | 6936663 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
19 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
18 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
18 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
14 | 0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2018 | |||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
9 | 0.851 | 0.120 | 19 | 13308452 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.790 | 0.120 | 19 | 13365448 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.882 | 0.080 | 19 | 13262789 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.851 | 0.040 | 17 | 50617560 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 1.000 | 0.080 | 1 | 226982996 | stop gained | C/T | snv | 4.5E-05 | 5.6E-05 | 0.020 | 0.500 | 2 | 2010 | 2012 | |||
|
7 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.160 | 15 | 30942802 | 3 prime UTR variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 | 0.020 | 1.000 | 2 | 2002 | 2010 | ||||
|
3 | 0.925 | 0.040 | 12 | 13571859 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 12 | 13571891 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.160 | 11 | 119091414 | missense variant | G/A;T | snv | 4.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.160 | 11 | 119091432 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 12 | 4912102 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 |