rs6969780

This variant is located in the HOXA3 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

diastolic blood pressure

Liang J et al. “Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.” Plos Genetics 13(5):e1006728 (2017)
Allele C
OR 0.46
p 3.0e-10
N 31,155
Large GWAS
multi-ancestry
Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele C
OR 0.26
p 1.0e-8
N 146,562
Meta-analysisLarge GWAS
multi-ancestry

hypertension

Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele C
OR 6.02
p 2.0e-9
N 146,562
Meta-analysisLarge GWAS
multi-ancestry

systolic blood pressure

Liang J et al. “Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.” Plos Genetics 13(5):e1006728 (2017)
Allele C
OR 0.69
p 6.0e-9
N 31,155
Large GWAS
multi-ancestry
Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele C
OR 0.42
p 3.0e-8
N 146,562
Meta-analysisLarge GWAS
multi-ancestry

mean arterial pressure

Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele C
OR 0.39
p 5.0e-8
N 146,562
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

not specified

View on ClinVar →

About HOXA3

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all HOXA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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