rs2284746

This variant is located in the MFAP2 gene.

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GWAS Catalog Trait Associations (6)

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

FEV/FVC ratio

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 9.0e-59
N 394,642
Large GWAS
European
Wain LV et al. “Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.” Nature Genetics 49(3):416-425 (2017)
Allele G
OR 0.04
p 1.0e-10
N 48,943
Large GWAS
European

body height

Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)
Allele C
OR 0.04
p 1.0e-40
N 253,288
Large GWAS
European
Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele C
OR —
β 0.040
p 4.0e-29
N 133,653
Large GWAS
European
Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)
Allele C
OR 0.03
p 2.0e-9
N 59,771
Major Consortium StudyLarge GWAS
Hispanic or Latin American
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele C
OR 0.06
p 2.0e-25
N 36,227
Meta-analysisLarge GWAS
East Asian
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele C
OR 1.17
p 5.0e-15
N 16,196
Meta-analysisLarge GWAS
European

FEV/FVC ratio, pulmonary function measurement

Soler Artigas M et al. “Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.” Nature Genetics 43(11):1082-90 (2011)
Allele G
OR 0.04
p 8.0e-16
N 48,201
Large GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 7.0e-14
N 1,122,049
Large GWAS
European

diastolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele C
OR 0.08
p 5.0e-9
N 1,164,961
Meta-analysisLarge GWAS
European

About MFAP2

Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

View all MFAP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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