rs2836883

This is a intergenic variant variant.

▶

GWAS Catalog Trait Associations (6)

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

sclerosing cholangitis

Han Y et al. “Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.” Nature Communications 14(1):1069 (2023)
Allele A
OR 0.11
p 2.0e-21
N 14,890
Large GWAS
European
Liu JZ et al. “Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.” Nature Genetics 45(6):670-5 (2013)
Allele A
OR 1.28
p 3.0e-17
N 28,868
Large GWAS
European
Ji SG et al. “Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.” Nature Genetics 49(2):269-273 (2017)
Allele A
OR 1.23
p 4.0e-13
N 14,890
Large GWAS
European

leukocyte quantity

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 0.03
p 5.0e-15
N 546,038
Major Consortium StudyLarge GWAS
multi-ancestry

serum albumin amount

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 1.0e-14
N 542,272
Major Consortium StudyLarge GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele G
OR 0.01
p 5.0e-10
N 928,679
Large GWAS
multi-ancestry

hemoglobin measurement

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 4.0e-13
N 408,112
Large GWAS
European

Takayasu arteritis

Ortiz-Fernández L et al. “Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study.” American Journal of Human Genetics 108(1):84-99 (2021)
Allele A
OR 0.64
p 1.0e-12
N 6,854
Large GWAS
multi-ancestry

ankylosing spondylitis

Cortes A et al. “Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.” Nature Genetics 45(7):730-8 (2013)
Allele G
OR 1.19
p 2.0e-14
N 25,764
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (2)

▶
Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations Observed With Ankylosing Spondylitis
AssociationN=14,050Robinson PC et al.(2015)· Arthritis &amp; Rheumatology

Genetic dissection of acute anterior uveitis (AAU) using high-density Immunochip genotyping in 1,711 AAU cases and 10,000 controls identifies HLA-B27 tag SNP rs116488202 (OR=16.8, P<1×10⁻³⁰⁰) as the strongest association, and three genome-wide significant non-MHC loci (IL23R, chromosome 2p15 intergenic region, and ERAP1) shared with ankylosing spondylitis. Five additional suggestive loci including IL10-IL19, IL18R1-IL1R1, IL6R, KIF21B, and EYS are identified, with shared genetic pathways with inflammatory bowel disease suggesting common etiologic mechanisms.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)AsthmaCeliac diseaseInflammatory bowel diseaseRetinitis pigmentosaSarcoidosisStatin-induced myopathy
PubMedDOIMetascience Observatory
▶
Genome-Wide Association Analysis in Primary Sclerosing Cholangitis And Ulcerative Colitis Identifies Risk Loci at Gpr35 And Tcf4
AssociationN=28,868David Ellinghaus et al.(2013)· Hepatology

This dense genotyping study identified 12 genome-wide significant susceptibility loci for primary sclerosing cholangitis (PSC) outside the HLA complex in 3,789 European PSC cases and 25,079 controls using the Immunochip array. Nine loci were novel, including rs7426056 (CD28; OR=1.30), rs3197999 (MST1; OR=1.33), rs13140464 (IL2/IL21; OR=1.30), rs56258221 (BACH2; OR=1.23), and rs2836883 (PSMG1; OR=1.28). The study found overlapping yet distinct genetic architecture between PSC and inflammatory bowel disease, with PSC being genetically more similar to ulcerative colitis than Crohn's disease.

Traits studied:Inflammatory bowel diseasePrimary sclerosing cholangitis
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…