Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.929 | 14 | 2003 | 2019 | ||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 2002 | 2015 | ||||||||
|
0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 |
|
0.900 | 1.000 | 14 | 2007 | 2018 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.100 | 0.857 | 14 | 2009 | 2016 | |||||||
|
0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 |
|
0.900 | 1.000 | 14 | 2008 | 2019 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.923 | 13 | 1999 | 2020 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.100 | 0.846 | 13 | 2003 | 2018 | |||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.710 | 1.000 | 13 | 1999 | 2012 | ||||||||
|
0.925 | 0.160 | 2 | 47806838 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.827 | 0.200 | 3 | 37007004 | missense variant | G/C | snv | 2.1E-04 | 1.9E-04 |
|
0.720 | 1.000 | 12 | 1996 | 2008 | |||||||
|
1.000 | 0.080 | 2 | 47800544 | missense variant | A/T | snv | 3.9E-04 | 3.5E-04 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||
|
0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 |
|
0.870 | 1.000 | 12 | 2008 | 2016 | ||||||||
|
0.925 | 0.160 | 2 | 47799679 | stop gained | G/A;T | snv | 2.4E-04 | 2.8E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 47804943 | missense variant | T/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.925 | 0.160 | 2 | 47803531 | missense variant | G/A | snv | 4.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 47801045 | missense variant | C/A;G | snv | 8.4E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800158 | missense variant | C/G | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 47800037 | missense variant | G/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.925 | 0.160 | 2 | 47800532 | missense variant | A/G | snv | 8.0E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47803546 | missense variant | C/G;T | snv | 7.6E-05; 4.0E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800343 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.882 | 0.200 | 2 | 47783292 | missense variant | C/A;T | snv | 4.1E-06; 9.4E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800298 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||
|
0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 |