rs1868164

This variant is located in the KY gene.

GWAS Catalog Trait Associations (1)

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

ecto-ADP-ribosyltransferase 3 measurement

Allele A
OR 0.05
p 3.0e-24
N 47,745
Large GWAS
European

ClinVar annotation

Benign☆☆☆
1 submitter
View on ClinVar →

About KY

The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]

View all KY variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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