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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 2 | 233282746 | missense variant | G/A;T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||||
|
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 | 233273379 | non coding transcript exon variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 233273379 | non coding transcript exon variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 233286109 | intron variant | G/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233286109 | intron variant | G/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.040 | 2 | 233273764 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv |
|
Digestive System Diseases | 0.810 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
0.882 | 0.120 | 2 | 233282746 | missense variant | G/A;T | snv |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
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 | |||||||
|
0.882 | 0.080 | 2 | 233274822 | intron variant | G/A | snv | 0.45 | 0.44 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |