rs17280293

This variant is located in the ADGRG6 gene.

▶

GWAS Catalog Trait Associations (7)

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

FEV/FVC ratio

Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele A
OR 0.18
p 2.0e-131
N 321,047
Large GWAS
European
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele A
OR 19.26
p 1.0e-82
N 588,452
Large GWAS
multi-ancestry
He Y et al. “Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction.” Nature Genetics 58(2):289-298 (2026)
Allele A
OR 0.09
p 1.0e-11
N 129,680
Large GWAS
East Asian

vital capacity

Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele A
OR 0.07
p 9.0e-22
N 321,047
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 1.0e-15
N 394,642
Large GWAS
European

chronic obstructive pulmonary disease

Moll M et al. “A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.” American Journal of Physiology. Lung Cellular and Molecular Physiology 321(1):L130-L143 (2021)
Allele A
OR 1.32
p 8.0e-18
N 251,091
Large GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.03
p 3.0e-11
N 455,180
Large GWAS
Hispanic or Latin American

hemoglobin measurement

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 G
OR —
p 4.0e-11
N 746,431
Large GWAS
multi-ancestry

diffusing capacity of the lung for carbon monoxide

Terzikhan N et al. “Heritability and genome-wide association study of diffusing capacity of the lung.” The European Respiratory Journal 52(3) (2018)
Allele A
OR 0.07
p 1.0e-10
N 8,372
Large GWAS
European
▶

ClinVar annotation

Benign★☆☆☆
2 submitters

not provided; Malignant lymphoma, large B-cell, diffuse; Malignant tumor of esophagus; Cervical cancer; Nonpapillary renal cell carcinoma; Colorectal cancer; Sarcoma; Thymoma; Melanoma

View on ClinVar →

About ADGRG6

This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]

View all ADGRG6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…