| 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 | 0.160 | 3 | 3149742 | non coding transcript exon variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.160 | 6 | 30899750 | 3 prime UTR variant | G/A | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 3 | 41883906 | missense variant | C/G;T | snv | 0.80 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.160 | 12 | 6789226 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.160 | 6 | 151208234 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 12 | 9984989 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.160 | 2 | 201185809 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | 6 | 170553212 | missense variant | G/C | snv | 0.42 | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.160 | 6 | 31164363 | 3 prime UTR variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.160 | 7 | 102028117 | missense variant | C/G | snv | 2.8E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.160 | X | 8533018 | missense variant | T/C | snv | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.160 | 1 | 15504663 | synonymous variant | G/A | snv | 4.4E-05 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.160 | 13 | 108204435 | downstream gene variant | C/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 7 | 108670542 | intergenic variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 6 | 31139481 | intron variant | T/C | snv | 0.72 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
1.000 | 0.160 | 5 | 95917404 | intron variant | C/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.160 | 5 | 95900755 | missense variant | C/T | snv | 0.27 | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.160 | 10 | 99790008 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.160 | 17 | 16945825 | intron variant | A/G | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
1.000 | 0.160 | 13 | 91349218 | non coding transcript exon variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 1 | 202791530 | intron variant | T/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 2 | 201185838 | missense variant | C/G;T | snv | 4.8E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.160 | 2 | 140846426 | intron variant | G/A | snv | 5.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |