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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 3 | 24122913 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.060 | 1.000 | 6 | 1994 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 24143511 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 1997 | 2003 | |||||
|
4 | 0.851 | 0.040 | 3 | 24122984 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2001 | 2005 | |||||
|
2 | 0.925 | 0.040 | 3 | 24127610 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 3 | 24127694 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.040 | 3 | 24122946 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.040 | 3 | 24143539 | missense variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.882 | 0.080 | 3 | 24127696 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1994 | 1994 | ||||
|
2 | 0.925 | 0.040 | 3 | 24127685 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
4 | 0.882 | 0.040 | 3 | 24127631 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 24127714 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.040 | 3 | 24122934 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
1 | 1.000 | 0.040 | 8 | 132882967 | missense variant | G/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 3 | 24127628 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 10 | 84232835 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
1 | 1.000 | 0.040 | 22 | 19898125 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
1 | 1.000 | 0.040 | 22 | 19880669 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.776 | 0.160 | 14 | 81143407 | missense variant | G/A;T | snv | 2.3E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 22 | 19918887 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 22 | 19877157 | missense variant | C/A;T | snv | 2.3E-04 | 0.010 | < 0.001 | 1 | 1994 | 1994 | ||||
|
5 | 0.827 | 0.120 | 15 | 45106327 | missense variant | G/A;T | snv | 3.2E-05; 6.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 24127679 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 24122921 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 24122894 | missense variant | A/C | snv | 0.700 | 0 |