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 | 16980180 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 6 | 2010 | 2019 | |||||||||||
|
1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv |
|
0.700 | 1.000 | 5 | 2008 | 2019 | |||||||||
|
0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 |
|
0.700 | 1.000 | 4 | 2013 | 2019 | |||||||
|
1 | 118312964 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
1 | 184049341 | upstream gene variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1 | 17005181 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
1 | 184037985 | upstream gene variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
1 | 218436360 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2010 | 2019 | |||||||||||
|
1 | 118307139 | regulatory region variant | G/C | snv | 0.30 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1 | 227739541 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
1 | 172250855 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
1 | 172224680 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
1 | 118341350 | intergenic variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2008 | 2019 | ||||||||||
|
1 | 176823113 | intron variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2010 | 2015 | ||||||||||
|
1 | 118325782 | intergenic variant | G/C | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
0.882 | 0.120 | 1 | 78157942 | regulatory region variant | C/T | snv | 7.8E-02 |
|
0.700 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
1 | 218431336 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
1 | 41280098 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||||
|
1 | 184051811 | missense variant | G/A | snv | 0.33 | 0.28 |
|
0.700 | 1.000 | 2 | 2008 | 2019 | |||||||||
|
1 | 214444842 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
1 | 47449561 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
1 | 118321993 | intergenic variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
1 | 218442109 | 3 prime UTR variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
1 | 184572468 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |