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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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1.000 | 14 | 64411115 | missense variant | T/C | snv |
|
0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||||
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1.000 | 14 | 64424882 | missense variant | C/T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||||
|
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 | |||||||
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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 | |||||||
|
14 | 64449470 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-03 |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 14 | 64419871 | stop gained | G/T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 14 | 64417926 | missense variant | C/T | snv | 3.6E-05 | 7.0E-05 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 14 | 64411109 | missense variant | C/T | snv | 1.3E-04 | 1.1E-04 |
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0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.882 | 0.080 | 14 | 64425752 | missense variant | G/A | snv | 1.7E-03 | 2.4E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 1998 | 2006 | ||||||
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0.882 | 0.080 | 14 | 64425752 | missense variant | G/A | snv | 1.7E-03 | 2.4E-03 |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
0.882 | 0.080 | 14 | 64425752 | missense variant | G/A | snv | 1.7E-03 | 2.4E-03 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
14 | 64432337 | intron variant | A/C | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.080 | 14 | 64420993 | non coding transcript exon variant | G/A | snv | 0.15 |
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Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
14 | 64417358 | intron variant | C/T | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
14 | 64453947 | intron variant | G/A | snv | 0.17 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
14 | 64459379 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.040 | 14 | 64401953 | intron variant | T/C | snv | 0.22 |
|
Eye Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 14 | 64401953 | intron variant | T/C | snv | 0.22 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 |
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Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 |
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Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
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0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 14 | 64457259 | intron variant | G/A | snv | 0.27 |
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0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
14 | 64456448 | intron variant | G/T | snv | 0.31 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 14 | 64442433 | intron variant | G/A | snv | 0.40 | 0.33 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.100 | 0.857 | 14 | 2002 | 2019 |