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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.840 | 25 | 2000 | 2017 | |||||||
|
0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv |
|
0.100 | 1.000 | 13 | 1997 | 2018 | |||||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.900 | 1.000 | 11 | 2009 | 2019 | |||||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.880 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 0.714 | 7 | 2002 | 2017 | |||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||
|
0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 |
|
0.040 | 0.750 | 4 | 1999 | 2003 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.040 | 0.750 | 4 | 2003 | 2008 | |||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | |||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.030 | 1.000 | 3 | 2007 | 2016 | ||||||||
|
0.851 | 0.120 | 1 | 226888097 | missense variant | C/A | snv | 1.9E-04 | 4.2E-05 |
|
0.030 | 1.000 | 3 | 2015 | 2019 | |||||||
|
0.851 | 0.160 | 1 | 226888979 | missense variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2000 | 2012 | |||||||||
|
1.000 | 0.080 | 1 | 6349787 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 |
|
0.020 | 1.000 | 2 | 2006 | 2013 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.742 | 0.320 | 1 | 109737079 | missense variant | C/T | snv | 4.0E-06; 0.35 | 0.26 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||
|
1.000 | 0.080 | 1 | 6339505 | missense variant | C/A;T | snv | 1.2E-05; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 6339568 | missense variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2013 | ||||||||
|
0.807 | 0.120 | 1 | 11016874 | missense variant | C/G;T | snv | 8.0E-06; 2.2E-04 |
|
0.020 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 160342475 | intron variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 1 | 6132805 | intron variant | G/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |