| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 4 | 10725229 | intergenic variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.200 | 12 | 111466567 | intron variant | T/A | snv | 0.66 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 10 | 113721259 | intron variant | C/T | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.860 | 0.900 | 3 | 2005 | 2018 | |||||||
|
0.882 | 0.080 | 11 | 118827828 | intergenic variant | G/A | snv | 0.79 |
|
0.820 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.925 | 0.040 | 3 | 119569567 | intergenic variant | A/C;T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2015 | |||||||||
|
1.000 | 0.040 | 8 | 132917672 | intron variant | C/T | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 166946901 | intron variant | T/C | snv | 0.53 | 0.50 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.160 | 6 | 167092303 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.882 | 0.040 | 6 | 168540944 | intron variant | G/A;C | snv |
|
0.810 | 0.500 | 1 | 2010 | 2011 | |||||||||
|
1.000 | 0.040 | 3 | 188369840 | intron variant | C/T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 188371466 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 3 | 2010 | 2015 | |||||||||
|
1.000 | 0.040 | 3 | 188396801 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 3 | 188406566 | intron variant | C/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 14 | 24632954 | missense variant | C/T | snv | 0.76 | 0.72 |
|
0.810 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.851 | 0.120 | 15 | 28111713 | 3 prime UTR variant | C/T | snv | 0.49 | 0.50 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 29861103 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 29969350 | downstream gene variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 29974306 | upstream gene variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.200 | 6 | 29975290 | non coding transcript exon variant | G/A | snv | 0.29 | 0.26 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 6 | 30103983 | non coding transcript exon variant | T/C | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30167325 | intron variant | C/T | snv | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30211411 | intron variant | G/C | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |