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 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 28034140 | inframe deletion | TCA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 8 | 89947835 | stop gained | T/A | snv | 3.9E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 8 | 89943297 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-05 | 0.700 | 0 | |||||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 8 | 89958819 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.320 | 8 | 89982736 | frameshift variant | AA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 1 | 1806515 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.935 | 46 | 2001 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.943 | 35 | 2001 | 2019 | |||||
|
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 | 0.030 | 1.000 | 3 | 2002 | 2013 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.060 | 0.667 | 6 | 2003 | 2019 | ||||
|
7 | 0.790 | 0.160 | 21 | 45512196 | missense variant | A/G | snv | 2.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
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 | |||
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 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 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 1.000 | 2 | 2005 | 2006 | |||
|
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 |