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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 96431316 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 21378943 | regulatory region variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | ||||||||||
|
10 | 4007811 | intergenic variant | A/G | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 89970201 | intergenic variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
13 | 61104778 | intron variant | G/A | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.040 | 12 | 120925921 | TF binding site variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
4 | 136739228 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
6 | 166292681 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
12 | 131600651 | upstream gene variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
14 | 28552722 | intergenic variant | C/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 71309082 | intergenic variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
22 | 50666252 | upstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
10 | 87578876 | intergenic variant | A/C | snv | 0.84 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 95028031 | intron variant | G/A | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
12 | 131040508 | intron variant | C/A;T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
7 | 134565570 | intron variant | A/C | snv | 0.51 | 0.52 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
10 | 5045786 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 18865983 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |