| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 999367 | intron variant | A/C | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
17 | 81288009 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
3 | 96431316 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 71382353 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
8 | 31147066 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1 | 21378943 | regulatory region variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 126665850 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 62516455 | non coding transcript exon variant | G/A | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
2 | 8390126 | intron variant | G/A | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
22 | 37217269 | upstream gene variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
4 | 1371339 | intron variant | T/C | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
9 | 110368883 | intron variant | T/G | snv | 8.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 50288880 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
5 | 174283195 | intergenic variant | T/- | del | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 102438768 | intergenic variant | C/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 162964207 | intergenic variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
21 | 13377702 | intergenic variant | G/A | snv | 8.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 42267463 | non coding transcript exon variant | T/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 37834896 | intron variant | C/G | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
20 | 61637438 | intron variant | C/T | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
10 | 4007811 | intergenic variant | A/G | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |