| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 7 | 54911231 | intergenic variant | C/T | snv | 0.27 |
|
0.860 | 0.833 | 6 | 2011 | 2017 | ||||||||
|
0.882 | 0.040 | 7 | 54848587 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 3 | 2015 | 2018 | |||||||||
|
1.000 | 0.040 | 11 | 118685689 | downstream gene variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 244811284 | intergenic variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 16 | 24578078 | intergenic variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 74782438 | intergenic variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 8 | 65264756 | intergenic variant | C/T | snv | 1.9E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 4364085 | intergenic variant | G/A;T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.752 | 0.240 | 14 | 56058851 | intergenic variant | G/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 5 | 1308437 | downstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 5 | 1316987 | downstream gene variant | G/A | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 128062664 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 3 | 49455048 | regulatory region variant | C/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 16 | 24576962 | downstream gene variant | A/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 1 | 54584133 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.280 | 2 | 54248777 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 39721376 | intron variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.160 | 7 | 17328796 | intron variant | T/C | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 14 | 32780875 | intron variant | G/A | snv | 9.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |