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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 8 | 2009 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 7 | 2008 | 2019 | |||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.800 | 1.000 | 6 | 2007 | 2019 | |||||||
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
19 | 44919330 | 3 prime UTR variant | A/G | snv | 3.7E-02 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 |
|
0.800 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.925 | 0.120 | 7 | 73573024 | non coding transcript exon variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 19955669 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
11 | 116748357 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||||
|
4 | 87109109 | intron variant | G/T | snv | 0.56 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
0.925 | 0.120 | 7 | 73450539 | intron variant | A/G | snv | 9.2E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 |