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 | 0.080 | 4 | 72989536 | intergenic variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 |
|
0.020 | 1.000 | 2 | 2008 | 2015 | |||||||
|
1.000 | 0.080 | 14 | 22836440 | upstream gene variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 21 | 38403547 | missense variant | T/C | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 126999692 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv |
|
0.070 | 1.000 | 7 | 2008 | 2017 | |||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 9 | 34049781 | upstream gene variant | T/A | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 8 | 127080210 | non coding transcript exon variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 4 | 2007 | 2015 | ||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 38080719 | intron variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 2 | 85567174 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2011 | 2018 | |||||||||
|
0.925 | 0.120 | 2 | 47012873 | intron variant | G/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 127081032 | non coding transcript exon variant | C/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.730 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 |
|
0.050 | 0.600 | 5 | 2001 | 2011 | ||||||||
|
0.925 | 0.080 | 19 | 43552170 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 21 | 41529494 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |