| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
1.000 | 0.080 | 8 | 9552985 | upstream gene variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 9549072 | intergenic variant | C/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 8 | 9545693 | regulatory region variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 12 | 7938243 | upstream gene variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 14141866 | downstream gene variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 14138061 | downstream gene variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv |
|
0.020 | 0.500 | 2 | 2006 | 2008 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
5 | 112819077 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 20 | 2006 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 20 | 2006 | 2019 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 201190589 | intron variant | C/T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.080 | 21 | 36071595 | intron variant | T/C | snv | 0.74 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 |