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 | 0.160 | 19 | 45353109 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1994 | 2004 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.060 | 1.000 | 6 | 2006 | 2011 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.050 | 1.000 | 5 | 2006 | 2013 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||
|
2 | 0.925 | 0.160 | 19 | 45353296 | frameshift variant | AA/- | delins | 2.0E-04 | 0.700 | 1.000 | 3 | 2001 | 2016 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
6 | 0.851 | 0.280 | 13 | 108210371 | missense variant | C/T | snv | 1.6E-04 | 2.1E-04 | 0.020 | 1.000 | 2 | 2010 | 2012 | |||
|
6 | 0.807 | 0.400 | 19 | 45352352 | missense variant | G/A | snv | 6.0E-05 | 2.8E-05 | 0.810 | 1.000 | 2 | 1996 | 2012 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.200 | 8 | 89955461 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.160 | 7 | 151078668 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 3 | 9757095 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.200 | 16 | 85767 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.160 | X | 71377774 | missense variant | G/A | snv | 1.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 19 | 45352580 | missense variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
4 | 0.851 | 0.400 | 19 | 45352235 | missense variant | G/A | snv | 2.4E-05 | 9.1E-05 | 0.710 | 1.000 | 1 | 1996 | 1996 | |||
|
2 | 0.925 | 0.200 | 1 | 230710637 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.160 | 7 | 151079887 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 19 | 54982237 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.200 | 19 | 45352772 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.160 | 7 | 55156637 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.240 | 9 | 97675558 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |