rs1422795

This is a protein-altering variant in the ADAM19 gene.

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GWAS Catalog Trait Associations (1)

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

chronic obstructive pulmonary disease

Moll M et al. “A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.” American Journal of Physiology. Lung Cellular and Molecular Physiology 321(1):L130-L143 (2021)
Allele C
OR 1.09
p 2.0e-17
N 251,091
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A narrow and highly significant linkage signal for severe bipolar disorder in the chromosome 5q33 region in Latin American pedigrees
AssociationN=592Jasinska AJ et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study reports a narrow and highly significant linkage signal for bipolar disorder type I (BP-I) on chromosome 5q33 in Costa Rican and Colombian pedigrees. Fine-mapping with 1,134 SNPs yielded a combined LOD score of 4.9 at rs10035961 (156.9 Mb), with two additional SNPs (rs7721142 and rs1422795) also showing LOD>4 in a 94 kb region. Population-based association analysis identified signals at rs12523547 (P=0.00004) and rs267015 (P=0.00016), though these did not clearly overlap with the linkage peak, suggesting possible allelic or locus heterogeneity.

Traits studied:Bipolar disorder type I (BP-I)Severe bipolar disorder
PubMedDOIMetascience Observatory

About ADAM19

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]

View all ADAM19 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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