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 | 0.080 | X | 71223973 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.080 | X | 24503479 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.240 | X | 107640938 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 0.240 | X | 107650000 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 21 | 42281867 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
2 | 1.000 | 0.080 | 20 | 13072400 | missense variant | T/C | snv | 2.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 1.000 | 20 | 4699698 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 19 | 50268255 | missense variant | G/A;T | snv | 6.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
6 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
9 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
11 | 0.827 | 0.160 | 18 | 31595184 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 18 | 52420925 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
6 | 0.851 | 0.240 | 18 | 31595212 | missense variant | A/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
9 | 0.827 | 0.120 | 17 | 15231047 | missense variant | G/A | snv | 4.0E-03 | 3.7E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 16 | 16081173 | intron variant | A/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 16 | 83591958 | intron variant | A/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 0.882 | 0.280 | 16 | 16178961 | missense variant | A/G;T | snv | 0.700 | 0 |