rs4809330

This variant is located in the ZGPAT gene.

GWAS Catalog Trait Associations (9)

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

vital capacity

Allele G
OR 0.03
p 1.0e-35
N 394,642
Large GWAS
European

forced expiratory volume

Allele G
OR 0.02
p 5.0e-28
N 394,642
Large GWAS
European
Allele G
OR 0.01
p 5.0e-14
N 373,397
Large GWAS
European

Crohn's disease

Allele G
OR 1.12
p 3.0e-15
N 21,389
Meta-analysisLarge GWAS
European

platelet crit

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 3.0e-14
N 408,112
Large GWAS
European

neutrophil count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 2.0e-13
N 408,112
Large GWAS
European
Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 2.0e-11
N 388,313
Major Consortium StudyLarge GWAS
multi-ancestry

cholesterol to total lipids in large LDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 5.0e-12
N 450,015
Large GWAS
multi-ancestry

lymphocyte count

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.02
p 6.0e-12
N 417,277
Major Consortium StudyLarge GWAS
multi-ancestry

phospholipids:total lipids ratio

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 7.0e-12
N 450,015
Large GWAS
multi-ancestry

forced expiratory volume, 25-hydroxyvitamin D3 measurement

Allele G
OR
p 1.0e-9
N 115,312
Meta-analysisLarge GWAS
multi-ancestry

Research that mentions this SNP (2)

Associations Between Genetic Variants in the IRGM Gene and Inflammatory Bowel Diseases in the Korean Population
AssociationN=400Chang Mo Moon et al.(2013)· Inflammatory Bowel Diseases

This PhD thesis by Paul Henderson comprises multiple studies on paediatric inflammatory bowel disease (PIBD) in Scotland, including epidemiological studies documenting a 76% rise in IBD incidence, genetic association studies identifying ICOSLG SNP rs8126734-A as overtransmitted in IBD/CD (p=0.0467, OR 1.85 for CD; p=0.0084), CRP gene variants rs1130864-A and rs1417938-A associated with PIBD susceptibility (OR 1.56-1.89 for CD), and functional characterization of NOD2 and autophagy pathways in Crohn's disease pathogenesis.

Traits studied:Colonic IBD unclassifiedCrohn's diseaseInflammatory bowel diseaseUlcerative colitis
Phenotype–Genotype Profiles in Crohnʼs Disease Predicted by Genetic Markers in Autophagy-Related Genes (GOIA Study II)
AssociationN=448Cecília Durães et al.(2013)· Inflammatory Bowel Diseases

This PhD thesis encompasses multiple studies on pediatric inflammatory bowel disease (IBD): epidemiological analysis shows rising incidence in Scotland (4.45 to 7.82 per 100,000 per year); transmission disequilibrium testing identified rs8126734-A as overtransmitted in IBD and CD (OR 1.48, p=0.047; OR 1.85 for CD, p=0.008); genome-wide association meta-analysis confirmed strong signals in ICOSLG 3'UTR for CD susceptibility; CRP gene variants (rs1417938, rs1130864) showed significant overtransmission (p=0.006, p=0.015); and faecal calprotectin demonstrated superior diagnostic accuracy for PIBD detection (sensitivity 0.93, specificity 0.74).

Traits studied:Crohn's diseaseInflammatory bowel diseasePediatric inflammatory bowel diseaseUlcerative colitis

About ZGPAT

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of epidermal growth factor-activated receptor activity and negative regulation of transcription by RNA polymerase II. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all ZGPAT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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