rs7689420

This is a regulatory region variant variant in the HHIP gene.

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GWAS Catalog Trait Associations (4)

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

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele T

OR 0.06

p 3.0e-255

N 405,540

Large GWAS

European

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele T

OR 0.04

p 2.0e-61

N 472,730

Large GWAS

East Asian

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 T

OR —

β 0.073

p 6.0e-51

N 133,653

Large GWAS

European

Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)

Allele T

OR 0.04

p 4.0e-13

N 67,452

Large GWAS

East Asian

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 T

OR 0.05

p 1.0e-14

N 59,771

Major Consortium StudyLarge GWAS

Hispanic or Latin American

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 T

OR 1.33

p 4.0e-21

N 16,196

Meta-analysisLarge GWAS

European

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)

Allele T

OR 0.05

p 1.0e-76

N 450,243

Major Consortium StudyLarge GWAS

European

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele C

OR 0.02

p 1.0e-42

N 337,739

Large GWAS

European

BMI-adjusted waist circumference

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)

Allele C

OR 0.04

p 3.0e-8

N 122,328

Meta-analysisLarge GWAS

multi-ancestry

About HHIP

This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]

rs7689420

GWAS Catalog Trait Associations (4)

body height

appendicular lean mass

lean body mass

BMI-adjusted waist circumference

About HHIP

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