| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 4224753 | intergenic variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 109313625 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
12 | 88435517 | downstream gene variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 199038079 | intron variant | C/T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | |||||||
|
16 | 260381 | intron variant | G/A;C | snv | 1.1E-02 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
1.000 | 0.040 | 16 | 190281 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
X | 154785832 | intron variant | C/T | snv | 7.8E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 46133768 | intron variant | G/C | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
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 | ||||||||||
|
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 | ||||||||||
|
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 |