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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 46133768 | intron variant | G/C | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||||
|
4 | 54528857 | intergenic variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||||
|
16 | 30091839 | 5 prime UTR variant | C/A | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
7 | 50360284 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
6 | 41957421 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||||
|
13 | 75483247 | upstream gene variant | G/A | snv | 6.8E-02 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
9 | 4856877 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
15 | 76006403 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 2050557 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1 | 3774964 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
16 | 120077 | intron variant | G/C | snv | 2.5E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
14 | 64236875 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
15 | 74760154 | downstream gene variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
7 | 100711557 | downstream gene variant | A/G | snv | 4.8E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
20 | 53605567 | intron variant | C/T | snv | 8.1E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 3080038 | intron variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
12 | 2414606 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
6 | 43973400 | intergenic variant | T/C | snv | 3.3E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
10 | 69334748 | intron variant | T/C | snv | 6.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 |