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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 8 | 132882967 | missense variant | G/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 22 | 19877146 | missense variant | G/A | snv | 5.3E-05 | 2.1E-05 | 0.020 | 1.000 | 2 | 1994 | 1997 | |||
|
2 | 0.925 | 0.080 | 22 | 19877157 | missense variant | C/A;T | snv | 2.3E-04 | 0.010 | < 0.001 | 1 | 1994 | 1994 | ||||
|
2 | 1.000 | 0.040 | 22 | 19877158 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 22 | 19880669 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 22 | 19895535 | missense variant | C/T | snv | 6.0E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
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 | 19918887 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.040 | 3 | 24122894 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 3 | 24122913 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.060 | 1.000 | 6 | 1994 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 24122921 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 24122934 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
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 | 24122965 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
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 | 24123122 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
2 | 0.925 | 0.040 | 3 | 24127609 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 24127610 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 3 | 24127628 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
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 | 24127679 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 24127685 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.882 | 0.040 | 3 | 24127694 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.882 | 0.080 | 3 | 24127696 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1994 | 1994 | ||||
|
1 | 1.000 | 0.040 | 3 | 24127714 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2010 | 2010 |