rs7481951

This is a variant in the ANO5 gene that changes a leucine to an phenylalanine.

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GWAS Catalog Trait Associations (13)

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 0.10
p 1.0e-76
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 0.10
p 7.0e-76
N 47,745
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 0.09
p 1.0e-56
N 47,745
Large GWAS
European

aspartate aminotransferase 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 0.03
p 2.0e-40
N 394,642
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 1.0e-33
N 493,058
Large GWAS
multi-ancestry
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele T
OR 10.50
p 8.0e-26
N 389,565
Large GWAS
multi-ancestry

myoglobin 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 0.06
p 3.0e-35
N 47,745
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.13
p 5.0e-23
N 10,708
Large GWAS
European

blood protein amount

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 0.05
p 8.0e-21
N 47,745
Large GWAS
European

cardiac troponin I measurement

Moksnes MR et al. “Genome-wide association study of cardiac troponin I in the general population.” Human Molecular Genetics 30(21):2027-2039 (2021)
Allele T
OR 0.05
p 3.0e-19
N 48,115
Large GWAS
European
Welsh P et al. “Cardiac Troponin T and Troponin I in the General Population.” Circulation 139(24):2754-2764 (2019)
Allele T
OR —
β 0.055
p 6.0e-10
N 14,579
Large GWAS
European

myomesin-2 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.11
p 1.0e-15
N 10,708
Large GWAS
European

creatine kinase m-type:creatine kinase b-type heterodimer measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.10
p 3.0e-15
N 10,708
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
17 submitters5 publications

ANO5-Related Muscle Diseases; Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12); Gnathodiaphyseal dysplasia (GDD); Limb-girdle muscular dystrophy, recessive; Miyoshi muscular dystrophy 3 (MMD3); Miyoshi myopathy; not specified

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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