| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 75341886 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 3 | 2017 | 2019 | |||||||||||
|
19 | 11078223 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
10 | 112150963 | 3 prime UTR variant | A/G | snv | 0.71 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 61811991 | intron variant | A/G | snv | 0.40 | 0.28 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||
|
8 | 9323885 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
19 | 19225799 | intron variant | C/T | snv | 9.4E-02 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||
|
0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 55058182 | missense variant | G/A;C | snv | 7.2E-03 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
1 | 109276674 | downstream gene variant | C/A;T | snv |
|
0.800 | 1.000 | 3 | 2014 | 2019 | |||||||||||
|
20 | 41182635 | 3 prime UTR variant | G/C;T | snv |
|
0.700 | 1.000 | 3 | 2010 | 2019 | |||||||||||
|
16 | 56953457 | intergenic variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 3 | 2010 | 2019 | |||||||||
|
2 | 43848344 | non coding transcript exon variant | T/C | snv | 7.3E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
0.851 | 0.120 | 5 | 75329662 | intron variant | C/A | snv | 0.38 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 3 | 2012 | 2019 |