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 | 171980610 | intron variant | T/C | snv | 0.78 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 205268009 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1.000 | 0.040 | 1 | 11986006 | intron variant | G/T | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1 | 247512257 | intron variant | C/T | snv | 0.70 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | |||||||
|
2 | 43460740 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 31259434 | intron variant | A/G | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 56815721 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
3 | 123121029 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
3 | 12226148 | intergenic variant | A/G | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 18269920 | intron variant | G/A | snv | 0.81 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||||
|
1.000 | 4 | 87265357 | intron variant | G/A | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
5 | 76751114 | intergenic variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
5 | 132484229 | non coding transcript exon variant | C/A;T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
5 | 88856300 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1.000 | 0.120 | 6 | 33572432 | intron variant | A/G | snv | 0.72 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
1.000 | 6 | 31354590 | non coding transcript exon variant | T/G | snv | 7.7E-02 | 2.3E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
1.000 | 0.120 | 6 | 33007237 | non coding transcript exon variant | T/C | snv | 0.40 | 0.40 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 25548060 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 33573942 | intron variant | A/G | snv | 0.51 | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||
|
7 | 106718770 | intron variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2011 | 2019 |