rs1812175

This variant is located in the HHIP gene.

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GWAS Catalog Trait Associations (5)

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

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 0.08
p 2.0e-86
N 253,288
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 C
OR 0.04
p 5.0e-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 C
OR 0.05
p 1.0e-11
N 59,771
Major Consortium StudyLarge GWAS
Hispanic or Latin American
Gudbjartsson DF et al. “Many sequence variants affecting diversity of adult human height.” Nature Genetics 40(5):609-15 (2008)
Allele C
OR 8.30
p 1.0e-11
N 30,968
Large GWAS
European
Liu JZ et al. “Genome-wide association study of height and body mass index in Australian twin families.” Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies 13(2):179-93 (2010)
Allele C
OR 0.12
p 1.0e-9
N 11,536
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.06
p 6.0e-58
N 219,872
Major Consortium StudyLarge GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.06
p 2.0e-34
N 143,480
Large GWAS
multi-ancestry

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.03
p 5.0e-17
N 219,872
Major Consortium StudyLarge GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.04
p 2.0e-11
N 143,480
Large GWAS
multi-ancestry
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 A
OR 0.05
p 8.0e-11
N 122,328
Meta-analysisLarge GWAS
multi-ancestry

infant body height

van der Valk RJ et al. “A novel common variant in DCST2 is associated with length in early life and height in adulthood.” Human Molecular Genetics 24(4):1155-68 (2015)
Allele A
OR 0.07
p 2.0e-9
N 28,238
Large GWAS
European

smoking behavior, BMI-adjusted waist circumference

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele A
OR 0.04
p 2.0e-8
N 195,506
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci
AssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics

Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.

Traits studied:Adult heightHuman stature
PubMedDOIMetascience Observatory

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]

View all HHIP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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