Genetics Genetics Research
CHROMOSOME 14 MTHFD1 14q23.3 GENE VIEW MTHFD1 · 14q23.3 14q22 14q24 rs2295639 — ~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 rs2295639 T / C · MTHFD1 · 14q23.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs2295639

Gene: MTHFD1 — Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1 Chr 14:64435398 14q23.3 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.96134C 0.03866TT 0.92546TC/CT 0.07176CC 0.00278pop=633,138 ↬
African T 0.84788C 0.15212TT 0.718323TC/CT 0.259116CC 0.022561pop=53,366
African American T 0.84895C 0.15105TT 0.720064TC/CT 0.257768CC 0.022168pop=51,426
African Others T 0.8196C 0.1804TT 0.672165TC/CT 0.294845CC 0.03299pop=1,940
Asian T 0.97465C 0.02535TT 0.950826TC/CT 0.047655CC 0.001519pop=10,534
East Asian T 0.9808C 0.0192TT 0.961776TC/CT 0.037987CC 0.000237pop=8,424
European T 0.972304C 0.027696TT 0.945439TC/CT 0.053729CC 0.000832pop=516,854
Latin American 1 T 0.9355C 0.0645TT 0.875278TC/CT 0.120515CC 0.004207pop=8,082
Latin American 2 T 0.98036C 0.01964TT 0.96097TC/CT 0.038782CC 0.000249pop=16,090
Other T 0.96313C 0.03687TT 0.92918TC/CT 0.067891CC 0.002929pop=22,536
Other Asian T 0.9502C 0.0498TT 0.907109TC/CT 0.086256CC 0.006635pop=2,110
South Asian T 0.9808C 0.0192TT 0.96265TC/CT 0.036293CC 0.001057pop=5,676

Studies1

Unread Studies1 ▼
1

The Role of Choline in Cognitive Performance and Cerebrovascular Health of Older Adults

Study ↗ PDF ↗
Choline is an essential nutrient with multiple links to brain health. As a component of phospholipids, choline is involved in cell signaling, lipid transport, and cell membrane structure. In this dissertation, the role of choline in cognitive performance, cerebrovascular health, and cardiometabolic risk in the older adult was explored through four separate studies.

2015 · Annie J. Roe

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.