AGER, advanced glycosylation end-product specific receptor, 177
N. diseases: 450; N. variants: 16
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 32181364 | stop gained | G/A;C | snv | 1.0E-04 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
6 | 32185629 | 3 prime UTR variant | C/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 1.000 | 12 | 2001 | 2016 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Cardiovascular Diseases | 0.100 | 0.900 | 10 | 2007 | 2016 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Respiratory Tract Diseases | 0.760 | 1.000 | 8 | 2012 | 2019 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.070 | 0.714 | 7 | 2001 | 2016 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Endocrine System Diseases | 0.070 | 0.714 | 7 | 2001 | 2016 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.070 | 0.857 | 7 | 2003 | 2016 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Cardiovascular Diseases | 0.050 | 0.600 | 5 | 2007 | 2016 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Cardiovascular Diseases | 0.040 | 0.750 | 4 | 2007 | 2016 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Neoplasms | 0.040 | 1.000 | 4 | 2014 | 2018 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 1.000 | 4 | 2014 | 2017 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 1.000 | 4 | 2014 | 2017 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.700 | 1.000 | 3 | 2010 | 2012 | |||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Eye Diseases | 0.030 | 0.333 | 3 | 2012 | 2013 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.710 | 1.000 | 3 | 2007 | 2011 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2005 | 2019 | ||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
Respiratory Tract Diseases | 0.020 | 0.500 | 2 | 2017 | 2017 |