Genetics Genetics Research
CHROMOSOME 5 MTRR 5p15.31 GENE VIEW MTRR · 5p15.31 5p16 5p14 rs1801394 — ~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 rs1801394 Isoleucine 22 → Methionine A / G · MTRR · 5p15.31 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs1801394

Isoleucine 22 → Methionine Gene: MTRR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase Chr 5:7870860 5p15.31 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.495285G 0.504715AA 0.256358AG/GA 0.477853GG 0.265789pop=736,088 ↬
African A 0.7091G 0.2909AA 0.505425AG/GA 0.407353GG 0.087223pop=70,234
African American A 0.70727G 0.29273AA 0.50274AG/GA 0.409051GG 0.088209pop=67,884
African Others A 0.7621G 0.2379AA 0.582979AG/GA 0.358298GG 0.058723pop=2,350
Asian A 0.71253G 0.28747AA 0.508167AG/GA 0.408728GG 0.083105pop=16,774
East Asian A 0.71749G 0.28251AA 0.514798AG/GA 0.405375GG 0.079827pop=12,502
European A 0.450528G 0.549472AA 0.204661AG/GA 0.491735GG 0.303604pop=574,346
Latin American 1 A 0.60265G 0.39735AA 0.359852AG/GA 0.485599GG 0.154549pop=11,388
Latin American 2 A 0.71291G 0.28709AA 0.513501AG/GA 0.398815GG 0.087685pop=21,258
Other A 0.52969G 0.47031AA 0.294407AG/GA 0.47057GG 0.235023pop=38,192
Other Asian A 0.698G 0.302AA 0.488764AG/GA 0.418539GG 0.092697pop=4,272
South Asian A 0.4648G 0.5352AA 0.224846AG/GA 0.479979GG 0.295175pop=3,896

Studies0

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