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 | 102351127 | intron variant | -/T | delins |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 102352407 | intron variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 102352407 | intron variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 102326460 | intron variant | A/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 2 | 102344364 | 3 prime UTR variant | A/C;G | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 102344364 | 3 prime UTR variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
2 | 102334362 | intron variant | A/C;G;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 102351127 | intron variant | A/C;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.810 | 1.000 | 3 | 2011 | 2014 | |||||||
|
0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 102314488 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 102340831 | splice region variant | A/G | snv | 1.6E-02 | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 102351468 | intron variant | A/G | snv | 0.46 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 2 | 102311266 | upstream gene variant | A/G | snv | 0.76 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 2 | 102311266 | upstream gene variant | A/G | snv | 0.76 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 2 | 102311266 | upstream gene variant | A/G | snv | 0.76 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 102346612 | intron variant | A/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 2 | 102328956 | intron variant | A/T | snv | 0.48 |
|
Infections | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 2 | 102339008 | missense variant | C/A | snv | 0.23 | 0.30 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 102344124 | 3 prime UTR variant | C/A | snv | 0.36 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 2 | 102316102 | intron variant | C/A | snv | 0.30 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 102316102 | intron variant | C/A | snv | 0.30 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |