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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.900 | 1.000 | 4 | 2004 | 2019 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.900 | 1.000 | 1 | 2005 | 2019 | |||||||
|
1.000 | 0.080 | 2 | 216033935 | intron variant | G/A | snv | 0.73 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 1 | 175150943 | downstream gene variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 150269889 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 11915124 | upstream gene variant | A/G | snv | 9.9E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 125302697 | intron variant | A/G | snv | 0.30 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 15 | 92501109 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 13 | 27346474 | upstream gene variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 13 | 97364162 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 4 | 4717767 | intron variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 99329262 | intron variant | C/A | snv | 0.13 |
|
0.820 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 21 | 37654970 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 49957256 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 4 | 99336998 | intron variant | C/T | snv | 0.38 |
|
0.710 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 9120023 | 3 prime UTR variant | A/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 31411078 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 236600564 | intergenic variant | G/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 |
|
0.720 | 1.000 | 2 | 2014 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 99346215 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 55278320 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 2 | 129236759 | intergenic variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99315605 | non coding transcript exon variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99150767 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 99313896 | synonymous variant | A/G;T | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |