rs61910685

This variant is located in the ANO5 gene.

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GWAS Catalog Trait Associations (4)

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

level of myomesin-3 in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.21
p 4.0e-17
N 47,745
Large GWAS
European

level of myosin light chain 3 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.19
p 5.0e-15
N 47,745
Large GWAS
European

aspartate aminotransferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.09
p 2.0e-14
N 354,541
Major Consortium StudyLarge GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.07
p 4.0e-14
N 394,642
Large GWAS
European

myosin-binding protein C, slow-type measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.18
p 5.0e-13
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
15 submitters20 publications

not specified; Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L; Gnathodiaphyseal dysplasia; ANO5-Related Muscle Diseases; Autosomal recessive limb-girdle muscular dystrophy type 2L; not provided; Miyoshi muscular dystrophy 3; Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L; ANO5-related disorder

View on ClinVar →

About ANO5

This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

View all ANO5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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