| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 |
|
0.700 | 1.000 | 7 | 2014 | 2019 | |||||||
|
15 | 58431227 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 5 | 2017 | 2019 | ||||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | |||||||
|
0.882 | 0.040 | 11 | 116715567 | regulatory region variant | T/C | snv | 0.93 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 4 | 2018 | 2019 | ||||||||||
|
8 | 125470379 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2017 | 2019 | |||||||||||
|
11 | 117204850 | 3 prime UTR variant | C/T | snv | 5.2E-02 |
|
0.700 | 1.000 | 4 | 2011 | 2019 | ||||||||||
|
15 | 43528519 | missense variant | C/T | snv | 2.2E-02 | 2.0E-02 |
|
0.700 | 1.000 | 4 | 2014 | 2019 | |||||||||
|
4 | 3442204 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
15 | 43974532 | intron variant | G/A | snv | 2.0E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
8 | 18415790 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
15 | 43434427 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||||
|
0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
11 | 61776489 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
10 | 50814012 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-03 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
2 | 20998163 | downstream gene variant | A/C | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
0.827 | 0.120 | 19 | 44908783 | missense variant | C/T | snv | 1.4E-03 | 6.9E-03 |
|
0.700 | 1.000 | 3 | 2014 | 2019 | |||||||
|
19 | 19344941 | non coding transcript exon variant | G/A | snv | 2.8E-02 | 1.5E-02 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||
|
7 | 73584775 | intergenic variant | T/G | snv | 0.16 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1 | 62458777 | non coding transcript exon variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 20070649 | intergenic variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 |