rs1422673

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GWAS Catalog Trait Associations (3)

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

autoimmune disease

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)
Allele T
OR —
p 2.0e-9
N 59,468
Meta-analysisLarge GWAS
European

systemic scleroderma

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)
Allele T
OR 1.23
p 1.0e-8
N 25,785
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's disease
AssociationN=2,344Jose A. Lopez‐Escamez et al.(2010)· The Laryngoscope

Case-control study of 716 Meniere's disease patients and 1,628 controls using ImmunoChip genotyping identified intronic variants rs3774937 (C allele) and rs4648011 (G allele) in the NFKB1 gene associated with faster hearing loss progression in patients with unilateral sensorineural hearing loss (corrected p=0.009 and p=0.003, respectively). These variants reduced median time to reach hearing stage 3 (≥40 dB) by approximately 2 years. No single variants reached genome-wide significance for MD susceptibility, and these NFKB1 variants did not influence hearing in bilateral MD.

Traits studied:Hearing loss progressionMeniere's diseaseSensorineural hearing loss
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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