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 | 0.120 | 8 | 89981417 | missense variant | G/A | snv | 5.8E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.120 | 8 | 89981412 | missense variant | C/A;G;T | snv | 1.7E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2018 | |||||
|
20 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 0.020 | 1.000 | 2 | 2001 | 2006 | ||||
|
4 | 0.851 | 0.160 | 21 | 45530871 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.882 | 0.120 | 21 | 45525868 | synonymous variant | G/T | snv | 5.3E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.060 | 1.000 | 6 | 2002 | 2014 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.050 | 1.000 | 5 | 2002 | 2017 | |||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2002 | 2013 | |||||
|
6 | 0.807 | 0.240 | 6 | 29942870 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.600 | 10 | 2003 | 2017 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 0.500 | 2 | 2004 | 2011 | |||
|
3 | 0.882 | 0.120 | 7 | 99778046 | missense variant | T/C;G | snv | 7.6E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.120 | 7 | 99762071 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.120 | 5 | 143300685 | splice donor variant | C/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.872 | 39 | 2005 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.871 | 31 | 2005 | 2019 | |||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.030 | 0.667 | 3 | 2005 | 2013 | ||||
|
3 | 0.882 | 0.120 | 2 | 176151875 | missense variant | A/C;T | snv | 5.2E-06; 7.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
8 | 0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
12 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
12 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.807 | 0.240 | 6 | 26091479 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
12 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.120 | 11 | 108284370 | frameshift variant | -/T | delins | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |