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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 24827609 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
2 | 24820052 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||||
|
2 | 24824537 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
2 | 24820011 | inframe deletion | AAG/- | delins | 4.0E-06; 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||||
|
2 | 24839960 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.120 | 2 | 24863989 | intron variant | T/C | snv | 0.32 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 2 | 24863989 | intron variant | T/C | snv | 0.32 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 2 | 24878223 | intron variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 2 | 24823221 | synonymous variant | T/C;G | snv | 0.69; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 2 | 24831392 | intron variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 2 | 24824539 | splice region variant | A/G | snv | 0.55 | 0.48 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 24896016 | intron variant | C/T | snv | 0.53 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 24894108 | intron variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 24894108 | intron variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 24894108 | intron variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 24908447 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||||
|
2 | 24908447 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||||
|
2 | 24908447 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 24915171 | intron variant | A/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
2 | 24914454 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |