rs951005

This variant is located in the PHF24 gene.

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GWAS Catalog Trait Associations (1)

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

rheumatoid arthritis

Stahl EA et al. “Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.” Nature Genetics 42(6):508-514 (2010)
Allele G
OR 0.86
p 4.0e-10
N 25,708
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Genome‐Wide Association Study of Dermatomyositis Reveals Genetic Overlap With Other Autoimmune Disorders
AssociationN=5,902Frederick W. Miller et al.(2013)· Arthritis &amp; Rheumatism

This genome-wide association study (GWAS) of 1,178 dermatomyositis cases and 4,724 controls identified strong associations in the MHC region (P < 5×10⁻⁸ at 80 SNPs) and three novel non-MHC autoimmune-associated variants: PLCL1 (rs6738825, FDR=0.00089), BLK (rs2736340, FDR=0.00031), and CCL21 (rs951005, FDR=0.0076). The findings demonstrate genetic overlap between dermatomyositis and other autoimmune diseases.

Traits studied:Autoimmune disease overlapDermatomyositis (adult and juvenile)
PubMedDOIMetascience Observatory

About PHF24

Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to act upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of pain; gamma-aminobutyric acid signaling pathway; and regulation of GABAergic synaptic transmission. Predicted to be active in glutamatergic synapse; nucleus; and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2025]

View all PHF24 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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