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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 12 | 120925921 | TF binding site variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
7 | 999367 | intron variant | A/C | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
17 | 81288009 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
3 | 96431316 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 71382353 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
8 | 31147066 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1 | 21378943 | regulatory region variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 126665850 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 62516455 | non coding transcript exon variant | G/A | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
2 | 8390126 | intron variant | G/A | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
22 | 37217269 | upstream gene variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
4 | 1371339 | intron variant | T/C | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
9 | 110368883 | intron variant | T/G | snv | 8.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 50288880 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
5 | 174283195 | intergenic variant | T/- | del | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 102438768 | intergenic variant | C/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 162964207 | intergenic variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |