| 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 | 0.040 | 10 | 100349445 | intron variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
10 | 100365004 | downstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
14 | 100846756 | non coding transcript exon variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.827 | 0.240 | 14 | 100853087 | non coding transcript exon variant | A/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 100860024 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 |
|
0.040 | 0.750 | 4 | 2017 | 2018 | |||||||
|
0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | 19 | 10146569 | intron variant | G/A | snv | 0.36 | 0.35 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 3 | 10146586 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 10 | 101580299 | missense variant | G/A | snv | 0.17 | 0.16 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.763 | 0.160 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 11 | 102114201 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |