rs78998485

This is a intron variant variant in the KDM5A gene.

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GWAS Catalog Trait Associations (2)

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

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele G

OR 0.19

p 2.0e-12

N 1,028,980

Large GWAS

multi-ancestry

pulse pressure measurement

Allele G

OR 0.13

p 1.0e-10

N 1,028,980

Large GWAS

multi-ancestry

About KDM5A

This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]

View all KDM5A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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