rs12979

This variant is located in the GSDME gene.

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GWAS Catalog Trait Associations (1)

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

systolic blood pressure

Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)

Allele C

OR 0.27

p 1.0e-9

N 757,601

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

Autosomal dominant nonsyndromic hearing loss 5

View on ClinVar →

About GSDME

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all GSDME variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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