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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 13 | 99322238 | intron variant | C/G | snv | 0.55 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
13 | 99304368 | intron variant | T/C | snv | 0.16 |
|
Digestive System Diseases | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
0.925 | 0.080 | 13 | 99322238 | intron variant | C/G | snv | 0.55 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 13 | 99303544 | intron variant | A/G | snv | 0.17 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 13 | 99303544 | intron variant | A/G | snv | 0.17 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 13 | 99303544 | intron variant | A/G | snv | 0.17 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
13 | 99202870 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 99202870 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.040 | 13 | 99255087 | synonymous variant | G/A | snv | 0.16 | 0.16 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.040 | 13 | 99255087 | synonymous variant | G/A | snv | 0.16 | 0.16 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.040 | 13 | 99255087 | synonymous variant | G/A | snv | 0.16 | 0.16 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.080 | 13 | 99333984 | intron variant | C/T | snv | 0.13 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 13 | 99351854 | intron variant | G/A;T | snv | 0.17; 7.9E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
13 | 99225217 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.200 | 13 | 99280668 | intron variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
13 | 99380092 | intron variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 99380092 | intron variant | A/G | snv | 0.57 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.200 | 13 | 99224027 | intron variant | G/A | snv | 0.57 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 13 | 99298006 | intron variant | G/A | snv | 0.71 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.200 | 13 | 99271586 | intron variant | T/A | snv | 0.80 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.200 | 13 | 99377286 | 3 prime UTR variant | A/G | snv | 0.13 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
13 | 99384164 | intron variant | A/G | snv | 0.17 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
13 | 99384164 | intron variant | A/G | snv | 0.17 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 13 | 99295133 | missense variant | G/A | snv | 4.0E-06 |
|
Neoplasms | 0.700 | 0 |