rs55686944
This variant is located in the MTHFR gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningoceleAssociationN=96Chiamaka N. Aneji et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology
This deep sequencing study of the MTHFR gene identified variants associated with myelomeningocele (a neural tube defect) in 96 affected subjects (49 Caucasian, 47 Mexican American). The authors discovered one novel intronic splice site variant (c.171+3G>T) and found seven SNPs with significant allele frequency differences compared to ethnically matched reference populations (p ≤ 0.05, Fisher's exact test), including five SNPs (rs13306561, rs2274976, rs2066462, rs12121543, rs1476413) not previously associated with neural tube defects.
About MTHFR
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
View all MTHFR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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