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 | 4 | 129748953 | non coding transcript exon variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 30491805 | regulatory region variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 40810324 | intergenic variant | C/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 5 | 40767295 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 8 | 4326648 | non coding transcript exon variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 88638889 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 40835525 | upstream gene variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 5 | 165935005 | intergenic variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 90724174 | non coding transcript exon variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 14 | 103847845 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 76104888 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 36308830 | upstream gene variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 14 | 35354025 | TF binding site variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 14 | 88752194 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 14 | 29000167 | intron variant | T/C | snv | 0.51 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 137116128 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 8 | 38351611 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 79994772 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 184776001 | intron variant | A/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 22524252 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 193481559 | intergenic variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 228206898 | intergenic variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 197518575 | intron variant | G/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |