rs4715517
This is a regulatory region variant variant in the HCRTR2 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum creatinine amount
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.09
p 3.0e-53
N 150,266
Large GWAS
East Asian
blood urea nitrogen amount
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.11
p 3.0e-51
N 492,819
Large GWAS
multi-ancestry
uric acid measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.07
p 1.0e-21
N 129,405
Large GWAS
East Asian
Park JS et al. “Genome-wide meta-analysis revealed several genetic loci associated with serum uric acid levels in Korean population: an analysis of Korea Biobank data.” Journal of Human Genetics 67(4):231-237 (2022)
Allele A
OR —
β 0.095
p 2.0e-13
N 60,585
Meta-analysisLarge GWAS
East Asian
erythrocyte count
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.06
p 3.0e-21
N 153,512
Large GWAS
East Asian
hematocrit
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.06
p 4.0e-18
N 503,490
Large GWAS
multi-ancestry
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.06
p 7.0e-12
N 142,940
Large GWAS
East Asian
hemoglobin measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 1.0e-16
N 502,921
Large GWAS
multi-ancestry
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR —
p 3.0e-10
N 746,431
Large GWAS
multi-ancestry
red blood cell density
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR —
p 2.0e-13
N 727,624
Large GWAS
multi-ancestry
About HCRTR2
The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009]
View all HCRTR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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