rs3101017
This is a protein-altering variant in the VWA7 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hemoglobin measurement
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele C
OR —
β 0.041
p 2.0e-35
N 684,122
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 C
OR 1.12
p 2.0e-14
N 251,091
Large GWAS
multi-ancestry
Inguinal hernia
Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele T
OR 1.11
p 1.0e-9
N 275,546
Major Consortium StudyLarge GWAS
European
About VWA7
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]
View all VWA7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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