RS137854521 ANO5

Health Risk Chr 11:22221100

Upload your DNA to see your genotype for this variant.

What This Variant Does

"Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LG...

Associated Conditions

Miyoshi muscular dystrophy 3

Autosomal recessive limb-girdle muscular dystrophy type 2L

Myopathy

Polycystic kidney disease

Achilles tendon contracture

Elevated circulating creatine kinase concentration

Lower limb muscle weakness

Lower limb amyotrophy

Gnathodiaphyseal dysplasia

ANO5-related disorder

Intellectual disability

Autosomal recessive limb-girdle muscular dystrophy

ANO5-related muscular dystrophy

Miyoshi muscular dystrophy 3

Autosomal recessive limb-girdle muscular dystrophy type 2L

GWAS Studies (2)

Trait	Risk Allele	OR / Beta	P-value	Study
Aspartate aminotransferase levels	—	OR: 0.2	9E-27	PubMed
Alanine aminotransferase levels	—	OR: 0.15	3E-14	PubMed

Other Variants in ANO5