MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1, 4522
N. diseases: 121; N. variants: 20
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.200 | 14 | 64388323 | 5 prime UTR variant | T/C;G | snv | 0.45; 8.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2007 | 2010 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Mental Disorders | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Mental Disorders | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||||
|
0.925 | 0.200 | 14 | 64388323 | 5 prime UTR variant | T/C;G | snv | 0.45; 8.1E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2004 | 2017 | ||||||
|
1.000 | 0.080 | 14 | 64420993 | non coding transcript exon variant | G/A | snv | 0.15 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 |