Genetics Genetics Research
CHROMOSOME 14 MTHFD1 14q23.3 GENE VIEW MTHFD1 · 14q23.3 14q22 14q24 rs2236225 — ~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 rs2236225 Arginine 653 → Glutamine G / A · MTHFD1 · 14q23.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs2236225

Arginine 653 → Glutamine Gene: MTHFD1 — Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1 Chr 14:64442127 14q23.3 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total G 0.577048A 0.422952GG 0.340579GA/AG 0.472938AA 0.186483pop=534,548 ↬
African G 0.78225A 0.21775GG 0.612809GA/AG 0.33889AA 0.048302pop=53,994
African American G 0.78055A 0.21945GG 0.610158GA/AG 0.340785AA 0.049057pop=51,980
African Others G 0.8262A 0.1738GG 0.681231GA/AG 0.28997AA 0.028798pop=2,014
Asian G 0.73847A 0.26153GG 0.545909GA/AG 0.385133AA 0.068959pop=10,412
East Asian G 0.7427A 0.2573GG 0.552547GA/AG 0.380261AA 0.067192pop=8,126
European G 0.551686A 0.448314GG 0.305549GA/AG 0.492274AA 0.202177pop=420,810
Latin American 1 G 0.5995A 0.4005GG 0.360736GA/AG 0.477477AA 0.161787pop=5,328
Latin American 2 G 0.4416A 0.5584GG 0.198538GA/AG 0.486127AA 0.315335pop=12,038
Other G 0.58837A 0.41163GG 0.356548GA/AG 0.463649AA 0.179803pop=23,548
Other Asian G 0.7235A 0.2765GG 0.52231GA/AG 0.40245AA 0.075241pop=2,286
South Asian G 0.4768A 0.5232GG 0.237349GA/AG 0.478974AA 0.283678pop=8,418

Studies0

Unread Studies0 ▼

No new studies.

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.