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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 19975135 | regulatory region variant | G/T | snv | 8.8E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 67868167 | intron variant | G/A | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 109457363 | non coding transcript exon variant | C/G | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
1.000 | 0.040 | 20 | 45916409 | upstream gene variant | C/T | snv | 0.68 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||||
|
1.000 | 0.040 | 16 | 56973441 | synonymous variant | C/T | snv | 5.1E-02 | 6.6E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
1.000 | 0.200 | 12 | 109562388 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 19966452 | 3 prime UTR variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 11 | 116763146 | missense variant | G/A | snv | 7.8E-02 | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 8 | 20009934 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 16 | 56960280 | upstream gene variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 16 | 56968492 | intron variant | C/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2018 |