| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 2 | 48974189 | intron variant | A/G | snv | 0.23 |
|
0.810 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 6 | 100173055 | upstream gene variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 6 | 100181202 | downstream gene variant | T/C | snv | 0.23 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 1.000 | 13 | 2003 | 2019 | ||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.040 | 0.750 | 4 | 2003 | 2016 | |||||||
|
0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.240 | 18 | 31595209 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.160 | 9 | 22055049 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 131570680 | intron variant | A/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 12 | 117439680 | intron variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 4 | 119565333 | synonymous variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 9 | 22200957 | downstream gene variant | G/A | snv | 7.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |