rs3468

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GWAS Catalog Trait Associations (1)

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

Cleft palate

Huang L et al. “Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.” Plos Genetics 15(10):e1008357 (2019)
Allele G
OR 1.26
p 5.0e-11
N 5,978
Large GWAS
East Asian
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Research that mentions this SNP (1)

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RFC1 80G&gt;A Is a Genetic Determinant of Methotrexate Efficacy in Rheumatoid Arthritis: A Human Genome Epidemiologic Review and Meta‐Analysis of Observational Studies
ReviewTabitha N. Kung et al.(2014)· Arthritis &amp; Rheumatology

This review summarizes current understanding of predictive biomarkers for treatment response in rheumatoid arthritis (RA), including clinical factors (age, sex, smoking, disease activity, BMI), pharmacogenomic markers (>30 SNPs identified, including rs6028945 in MAFB gene with OR=11.2 for TNFi non-response, and rs3468 in LRPAP1 gene), epigenetic modifications (DNA methylation, miRNAs), transcriptomic signatures, proteomic markers, metabolomic patterns, and machine learning approaches for personalizing therapy across TNF inhibitors, IL-6 inhibitors, B-cell depleting agents, and other biologics.

Traits studied:Disease activityRadiographic progressionResponse to JAK inhibitorsResponse to TNF blockersResponse to abataceptResponse to adalimumabResponse to anti-TNF inhibitor therapyResponse to anti-TNF therapyResponse to biologic disease-modifying antirheumatic drugs (bDMARDs)Response to etanerceptResponse to infliximabResponse to methotrexateResponse to rituximabResponse to tocilizumabResponse to tofacitinibRheumatoid arthritisTreatment remission
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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