ATP6V1G2-DDX39B, ATP6V1G2-DDX39B readthrough (NMD candidate), 100532737
N. diseases: 15; N. variants: 25
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 6 | 31542190 | 5 prime UTR variant | G/T | snv | 0.17 | 0.15 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 6 | 31539024 | intron variant | G/A | snv | 0.18 | 0.16 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 6 | 31538871 | synonymous variant | G/T | snv | 0.76 | 0.76 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.160 | 6 | 31543147 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.882 | 0.160 | 6 | 31543147 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.882 | 0.160 | 6 | 31543147 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.882 | 0.160 | 6 | 31543147 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.882 | 0.160 | 6 | 31543147 | intron variant | A/G | snv | 0.23 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.925 | 0.160 | 6 | 31548022 | intron variant | G/A;C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 6 | 31548022 | intron variant | G/A;C | snv |
|
Neoplasms; Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 6 | 31543147 | intron variant | A/G | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.200 | 6 | 31547563 | intron variant | T/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.200 | 6 | 31547563 | intron variant | T/A;C | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.200 | 6 | 31547563 | intron variant | T/A;C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.240 | 6 | 31537703 | intron variant | A/G | snv | 0.10 |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.240 | 6 | 31537703 | intron variant | A/G | snv | 0.10 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.240 | 6 | 31537703 | intron variant | A/G | snv | 0.10 |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 |