Genetics Genetics Research
CHROMOSOME 14 MTHFD1 14q23.3 GENE VIEW MTHFD1 · 14q23.3 14q22 14q24 rs10498514 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs10498514 A / C · MTHFD1 · 14q23.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs10498514

Gene: MTHFD1 — Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1 Chr 14:64432337 14q23.3 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.9573C 0.0427AA 0.918636AC/CA 0.077329CC 0.004036pop=697,312 ↬
African A 0.81667C 0.18333AA 0.667009AC/CA 0.299325CC 0.033666pop=64,338
African American A 0.8178C 0.1822AA 0.668824AC/CA 0.297942CC 0.033234pop=62,106
African Others A 0.7854C 0.2146AA 0.616487AC/CA 0.337814CC 0.045699pop=2,232
Asian A 0.9772C 0.0228AA 0.955552AC/CA 0.043304CC 0.001143pop=13,994
East Asian A 0.98179C 0.01821AA 0.963771AC/CA 0.036039CC 0.00019pop=10,544
European A 0.972335C 0.027665AA 0.945501AC/CA 0.053666CC 0.000832pop=552,638
Latin American 1 A 0.927C 0.073AA 0.859496AC/CA 0.135084CC 0.00542pop=9,594
Latin American 2 A 0.98058C 0.01942AA 0.961378AC/CA 0.038413CC 0.000209pop=19,160
Other A 0.96124C 0.03876AA 0.926204AC/CA 0.070076CC 0.00372pop=29,568
Other Asian A 0.9632C 0.0368AA 0.930435AC/CA 0.065507CC 0.004058pop=3,450
South Asian A 0.9808C 0.0192AA 0.962344AC/CA 0.036908CC 0.000748pop=8,020

Studies1

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1

Nutrition for brain health and cognitive performance

Study ↗ PDF ↗
PID
Public awareness of the role diet plays in brain function has been steadily increasing. This has led to significant development of new products, dietary supplements, functional foods, nutraceuticals and public health recommendations for maintaining brain function. Nutrition for Brain Health and Cognitive Performance presents a detailed and innovative scientific summary of nutrition–cognition research to provide valuable information regarding nutrition and lifestyle choices for cognitive health. Internationally recognised scholars along with the next generation of researchers have contributed chapters that present a valuable resource for health professionals, teachers, researchers and the general public.

2015 · Talitha Best, Louise Dye

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