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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 11 | 8221479 | downstream gene variant | A/G | snv | 0.49 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.882 | 0.080 | 11 | 8217092 | intergenic variant | G/A | snv | 0.42 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.827 | 0.200 | 8 | 24944767 | intergenic variant | A/G | snv | 0.70 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
1.000 | 0.040 | 14 | 22254840 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 161743067 | intergenic variant | C/T | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 38295217 | upstream gene variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38326911 | non coding transcript exon variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.080 | 9 | 134449754 | TF binding site variant | T/C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 143544453 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 1 | 143653074 | upstream gene variant | A/C | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38322024 | upstream gene variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38323965 | upstream gene variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38290217 | downstream gene variant | G/A | snv | 6.9E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 15 | 74165683 | intron variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 14 | 22268637 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 14 | 22026498 | regulatory region variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 22020341 | intergenic variant | T/C | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 143550435 | intron variant | T/C | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 143545399 | intron variant | C/T | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38316944 | downstream gene variant | C/T | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38323356 | upstream gene variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 7 | 38324688 | upstream gene variant | T/C | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38291209 | downstream gene variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |