Genetics Genetics Research
CHROMOSOME 1 MTR 1q43 GENE VIEW MTR · 1q43 1q42 1q44 rs1805087 — ~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 rs1805087 Aspartic Acid 919 → Glycine A / G · MTR · 1q43 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

rs1805087

Aspartic Acid 919 → Glycine Gene: MTR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Chr 1:236885200 1q43 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.802322G 0.197678AA 0.645013AG/GA 0.314617GG 0.04037pop=839,688 ↬
African A 0.73431G 0.26569AA 0.539862AG/GA 0.38889GG 0.071248pop=71,974
African American A 0.73528G 0.26472AA 0.541169AG/GA 0.388226GG 0.070605pop=69,542
African Others A 0.7064G 0.2936AA 0.502467AG/GA 0.407895GG 0.089638pop=2,432
Asian A 0.85743G 0.14257AA 0.738323AG/GA 0.238209GG 0.023468pop=17,556
East Asian A 0.86221G 0.13779AA 0.745858AG/GA 0.23271GG 0.021432pop=13,158
European A 0.809115G 0.190885AA 0.655186AG/GA 0.307857GG 0.036956pop=668,030
Latin American 1 A 0.80196G 0.19804AA 0.644682AG/GA 0.314556GG 0.040763pop=11,432
Latin American 2 A 0.81522G 0.18478AA 0.663964AG/GA 0.302503GG 0.033534pop=19,980
Other A 0.80435G 0.19565AA 0.647903AG/GA 0.312885GG 0.039212pop=41,926
Other Asian A 0.8431G 0.1569AA 0.71578AG/GA 0.254661GG 0.029559pop=4,398
South Asian A 0.6944G 0.3056AA 0.490102AG/GA 0.408646GG 0.101251pop=8,790

Studies0

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