| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 152678103 | upstream gene variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2008 | 2015 | |||||||||
|
1.000 | 0.080 | 8 | 120798309 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 201284973 | synonymous variant | G/A | snv | 9.5E-02 | 0.10 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.080 | 5 | 1343679 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 15 | 49536822 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 60210809 | intron variant | G/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 78099774 | 5 prime UTR variant | C/T | snv | 0.30 | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.080 | 11 | 5807854 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 18 | 63319316 | 5 prime UTR variant | C/G | snv | 0.98 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 18 | 63476675 | upstream gene variant | T/C | snv | 2.9E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 6 | 31579073 | downstream gene variant | G/A | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 14 | 23309489 | 3 prime UTR variant | A/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 176681548 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 1 | 225831952 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.080 | 15 | 96319940 | intron variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 48477345 | intron variant | T/A | snv | 0.24 | 0.20 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.080 | 6 | 32679924 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 19 | 30454165 | intron variant | G/A | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 12720299 | intron variant | G/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 7 | 127901009 | intron variant | A/G | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 753860 | missense variant | C/T | snv | 6.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 17 | 7674959 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 20 | 51492442 | intron variant | G/A | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 113099704 | intron variant | G/A | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2020 | 2020 |