rs3737965
This is a regulatory region variant variant in the CLCN6 gene.
▶Research that mentions this SNP (2)
▶The rs3737964 single‐nucleotide polymorphism of the chloride channel‐6 gene as a risk factor for coronary heart diseaseAssociationN=2,393Li Zhang et al.(2015)· Molecular Genetics & Genomic Medicine
This case-control study of 1,193 CHD patients and 1,200 controls in a Chinese population found that the rs3737964 SNP in the chloride channel-6 (CLC-6) gene is associated with coronary heart disease (CHD). The TT genotype showed significantly increased risk (OR=2.32, 95% CI: 1.17-4.06, P=0.016), with even stronger association in smokers (OR=3.19, P=0.043) and individuals over 60 years old or males.
▶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 CLCN6
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
View all CLCN6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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