| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 102438768 | intergenic variant | C/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 106381662 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
9 | 110368883 | intron variant | T/G | snv | 8.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
11 | 119345845 | missense variant | T/C | snv | 4.0E-03 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 12 | 120925921 | TF binding site variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
3 | 124678475 | non coding transcript exon variant | T/- | delins | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 126665850 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 130437119 | missense variant | G/A;C | snv | 9.2E-06; 5.3E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
12 | 131040508 | intron variant | C/A;T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
12 | 131600651 | upstream gene variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
10 | 133370917 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
21 | 13377702 | intergenic variant | G/A | snv | 8.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 134565570 | intron variant | A/C | snv | 0.51 | 0.52 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
9 | 134812936 | intron variant | G/A | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
4 | 136739228 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
4 | 1371339 | intron variant | T/C | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1 | 156229203 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
3 | 162964207 | intergenic variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 166292681 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
5 | 174283195 | intergenic variant | T/- | del | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 1872586 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 18865983 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 2047157 | non coding transcript exon variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1 | 21378943 | regulatory region variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |