| 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 | 6 | 51495005 | regulatory region variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 21 | 37616044 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 13 | 73887725 | intron variant | -/A;AA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 99126006 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 1 | 175150943 | downstream gene variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 15 | 38696614 | non coding transcript exon variant | C/G;T | snv | 0.26; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 21 | 37680576 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 10 | 97705109 | intergenic variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
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 | 21 | 37635196 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 4 | 99293007 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 6 | 31500215 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 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 | |||||||
|
0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 4 | 98671846 | intergenic variant | A/G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 59316241 | intron variant | G/A | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 9 | 104376689 | intergenic variant | A/G | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 7 | 100185286 | intron variant | C/T | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 6 | 91209048 | intergenic variant | C/T | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 49589080 | intergenic variant | C/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 11 | 18705901 | missense variant | T/C | snv | 3.5E-02 | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 4 | 90215590 | intron variant | G/A | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |