| 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 | 56815721 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
1.000 | 0.120 | 6 | 33572432 | intron variant | A/G | snv | 0.72 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
11 | 243268 | non coding transcript exon variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 2 | 2011 | 2014 | ||||||||||
|
0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
22 | 19996754 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
17 | 35557785 | missense variant | T/C | snv | 0.21 | 0.19 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
1 | 171980610 | intron variant | T/C | snv | 0.78 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
18 | 23141009 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||||||
|
11 | 202856 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||||
|
14 | 102573750 | regulatory region variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
9 | 134060541 | intron variant | G/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
16 | 215160 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
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 | |||||||
|
9 | 4814948 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1 | 205268009 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 43460740 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
15 | 64891602 | intron variant | A/G | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
19 | 45237513 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
5 | 76751114 | intergenic variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
12 | 112663189 | intron variant | C/A | snv | 0.26 |
|
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 | ||||||||||
|
1.000 | 0.080 | 14 | 103100448 | missense variant | C/T | snv | 0.22 | 0.20 |
|
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 |