| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 2 | 8802974 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 9 | 120980540 | intron variant | G/A | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 9 | 121803541 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 19 | 51623777 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 14 | 75347325 | intergenic variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 1 | 233584238 | intergenic variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 1 | 88159953 | intron variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 4 | 189616909 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 7 | 135816721 | intron variant | C/T | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 5 | 111203694 | intergenic variant | G/A | snv | 7.8E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 9 | 135637876 | intron variant | G/C | snv | 0.36 |
|
0.810 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 17 | 78223864 | 3 prime UTR variant | T/G | snv | 1.2E-02 | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 6 | 45729051 | TF binding site variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 9 | 12914397 | intergenic variant | G/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 161673254 | intron variant | A/G;T | snv | 0.20 | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 31572980 | missense variant | A/C | snv | 4.7E-02 | 4.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 7 | 37706967 | intron variant | C/T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 12 | 3679094 | synonymous variant | G/A | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 7 | 24338421 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 3 | 12881698 | intron variant | C/A | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 112917144 | missense variant | A/G | snv | 6.8E-02 | 1.0E-01 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.040 | 11 | 102845217 | upstream gene variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 19 | 6887725 | intron variant | G/A | snv | 8.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 19 | 51628480 | intron variant | A/G | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 3 | 158796571 | intron variant | T/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |