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 | 20 | 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 | 19 | 2008 | 2019 | |||||||
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 9 | 2007 | 2019 | ||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 8 | 2010 | 2019 | ||||||||
|
0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 8 | 2008 | 2019 | ||||||||
|
0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 |
|
0.800 | 1.000 | 8 | 2012 | 2019 | |||||||
|
0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 |
|
0.700 | 1.000 | 7 | 2014 | 2019 | |||||||
|
0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||||
|
0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 |
|
0.800 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
15 | 58431227 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
1.000 | 0.080 | 8 | 19975135 | regulatory region variant | G/T | snv | 8.8E-02 |
|
0.800 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
1 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
15 | 43953733 | intron variant | A/T | snv | 0.13 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 5 | 2017 | 2019 | ||||||||
|
4 | 87109109 | intron variant | G/T | snv | 0.56 |
|
0.800 | 1.000 | 5 | 2010 | 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 |