CHROMOSOME 1 MTR 1q43 GENE VIEW MTR · 1q43 1q42 1q44 rs2853523 — ~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 rs2853523 A / C · MTR · 1q43 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

rs2853523

Gene: MTR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Chr 1:236898898 1q43 3 Prime UTR Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.341386C 0.658614AA 0.126385AC/CA 0.430002CC 0.443613pop=227,906
African A 0.09387C 0.90613AA 0.009132AC/CA 0.169482CC 0.821385pop=26,280
African American A 0.09579C 0.90421AA 0.009384AC/CA 0.172818CC 0.817798pop=25,576
African Others A 0.024C 0.976AA 0AC/CA 0.048295CC 0.951705pop=704
Asian A 0.1661C 0.8339AA 0.032847AC/CA 0.266423CC 0.70073pop=1,096
East Asian A 0.179C 0.821AA 0.03632AC/CA 0.285714CC 0.677966pop=826
European A 0.384967C 0.615033AA 0.148997AC/CA 0.47194CC 0.379063pop=171,560
Latin American 1 A 0.3138C 0.6862AA 0.108037AC/CA 0.411506CC 0.480457pop=4,554
Latin American 2 A 0.3076C 0.6924AA 0.09052AC/CA 0.434167CC 0.475313pop=12,152
Other A 0.3221C 0.6779AA 0.112402AC/CA 0.419392CC 0.468205pop=12,046
Other Asian A 0.126C 0.874AA 0.022222AC/CA 0.207407CC 0.77037pop=270
South Asian A 0.289C 0.711AA 0.091743AC/CA 0.394495CC 0.513761pop=218

Studies11

Unread Studies11
1
Aneurysms impacting the ascending thoracic aorta and the abdominal aorta affect patient populations with distinct clinical characteristics. Through a literature review, this paper …
2
Abdominal aortic aneurysms (AAAs) are focal dilations of the aorta that develop from degenerative changes in the media and adventitia of the vessel. Ruptured AAAs have a mortality of …
3
This study was conducted to investigate the association between genetic variants in one-carbon metabolism and survival outcomes of surgically resected non-small cell …
4
A wide variety of genetic polymorphisms have demonstrated a significant association to the disease abdominal aortic aneurysm (AAA). Polymorphisms in rs217120 (…
5
Recent research suggests that maternal folic acid supplementation is associated with a reduced risk of childhood brain tumors (CBT); polymorphisms in folate pathway …
6
Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukemia (ALL). We …
7
High‐dose methotrexate ( HD ‐ MTX ) plays an important role in the consolidation therapy of acute lymphoblastic leukaemia ( ALL ) in many treatment regimens worldwide. However, …
8
In this study we investigated whether polymorphisms in the folate pathway influenced the risk of childhood acute lymphoblastic leukemia (ALL) or the survival rate of the patients. For this …
9
In this study we investigated whether polymorphisms in the folate pathway influenced the risk of childhood acute lymphoblastic leukemia (ALL) or the survival rate of the patients. For this …
10
One‐carbon metabolism plays a critical role in DNA methylation and DNA synthesis. Variants of genes involved in one‐carbon metabolism may result in aberrant …
11
Dysfunction in enzymes involved in one-carbon (1-C) metabolism can lead to increased chromosomal strand breaking and abnormal methylation patterns, which are both associated …
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.