rs73129526

This is a regulatory region variant variant in the GNAS-AS1 gene.

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GWAS Catalog Trait Associations (1)

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

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.02

p 5.0e-10

N 415,403

Large GWAS

multi-ancestry

About GNAS-AS1

This gene produces a paternally-imprinted antisense RNA transcript that helps regulate the GNAS complex locus, which encodes the alpha subunit of the stimulatory G protein. Defects in this gene are a cause of pseudohypoparathyroidism type Ib.[provided by RefSeq, Jun 2010]

View all GNAS-AS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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