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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 7 | 128254572 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 1998 | 2015 | ||||||||||
|
1.000 | 7 | 128254720 | missense variant | T/C | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 7 | 128254557 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 7 | 128254557 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 128254568 | missense variant | C/A;T | snv | 2.0E-05; 1.8E-03 |
|
0.030 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 128239891 | upstream gene variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 128254587 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 128254433 | synonymous variant | C/G;T | snv | 8.0E-06; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 128254653 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 7 | 128241246 | upstream gene variant | G/A | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 7 | 128241246 | upstream gene variant | G/A | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 7 | 128241246 | upstream gene variant | G/A | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 7 | 128241246 | upstream gene variant | G/A | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 7 | 128241246 | upstream gene variant | G/A | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 128252927 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 7 | 128252927 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 128252927 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |