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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||
|
6 | 160668785 | intron variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2010 | 2012 | ||||||||||
|
0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.925 | 0.080 | 17 | 39657603 | intron variant | G/C | snv | 0.52 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
2 | 20976028 | intergenic variant | G/A | snv | 0.25 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
2 | 164684290 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
18 | 60181790 | intergenic variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2010 | 2016 | ||||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1 | 182199750 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
16 | 67894139 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.851 | 0.240 | 16 | 56961915 | upstream gene variant | G/A | snv | 2.1E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.882 | 0.080 | 16 | 56954132 | intergenic variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
1.000 | 0.080 | 8 | 19975135 | regulatory region variant | G/T | snv | 8.8E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
22 | 21577779 | intron variant | C/T | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
0.925 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
1.000 | 0.040 | 16 | 67868167 | intron variant | G/A | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
1.000 | 0.040 | 12 | 109457363 | non coding transcript exon variant | C/G | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2008 | 2019 |