Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.900 | 0.961 | 51 | 2007 | 2020 | ||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.100 | 0.833 | 12 | 2007 | 2019 | ||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.700 | 1.000 | 11 | 2007 | 2016 | ||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.070 | 1.000 | 7 | 2007 | 2020 | ||||||
|
0.882 | 0.120 | 2 | 233282746 | missense variant | G/A;T | snv |
|
Digestive System Diseases | 0.060 | 1.000 | 6 | 2007 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 233274822 | intron variant | G/A | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||||
|
1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv |
|
Digestive System Diseases | 0.810 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||||
|
1.000 | 0.040 | 2 | 233275771 | non coding transcript exon variant | G/A | snv | 0.45 | 0.42 |
|
Digestive System Diseases | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||||
|
0.882 | 0.120 | 2 | 233282746 | missense variant | G/A;T | snv |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 233264857 | intron variant | G/A;C | snv | 0.45; 4.0E-06 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 2 | 233264857 | intron variant | G/A;C | snv | 0.45; 4.0E-06 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 2 | 233286311 | intron variant | T/G | snv | 0.56 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 2 | 233286311 | intron variant | T/G | snv | 0.56 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 2 | 233286311 | intron variant | T/G | snv | 0.56 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 2 | 233270020 | synonymous variant | G/A | snv | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 2 | 233293259 | synonymous variant | T/C | snv | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.040 | 2 | 233293259 | synonymous variant | T/C | snv | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.040 | 2 | 233293259 | synonymous variant | T/C | snv | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 233236434 | intron variant | T/C | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233236434 | intron variant | T/C | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233257131 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 2 | 233277843 | intron variant | A/G | snv | 0.69 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 2 | 233274822 | intron variant | G/A | snv | 0.45 | 0.44 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.080 | 2 | 233274822 | intron variant | G/A | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |