rs1800693

This is a downstream gene variant variant in the TNFRSF1A gene.

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GWAS Catalog Trait Associations (4)

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

multiple sclerosis

“Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.” Science (new York, N.y.) 365(6460) (2019)

Allele G

OR 1.15

p 2.0e-47

N 41,505

Large GWAS

multi-ancestry

Shigesi N et al. “The phenotypic and genetic association between endometriosis and immunological diseases.” Human Reproduction (oxford, England) 40(6):1195-1209 (2025)

Allele G

OR 0.05

p 4.0e-13

N 62,543

Large GWAS

European

Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)

Allele G

OR 1.14

p 7.0e-28

N 38,589

Large GWAS

European

Sawcer S et al. “Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.” Nature 476(7359):214-9 (2011)

Allele G

OR 1.12

p 4.0e-14

N 26,621

Large GWAS

European

Andlauer TF et al. “Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.” Science Advances 2(6):e1501678 (2016)

Allele G

OR 1.17

p 3.0e-8

N 15,283

Large GWAS

European

De Jager PL et al. “Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.” Nature Genetics 41(7):776-782 (2009)

Allele G

OR 1.20

p 2.0e-11

N 9,844

Meta-analysis

European

C-reactive protein measurement

Said S et al. “Genetic analysis of over half a million people characterises C-reactive protein loci.” Nature Communications 13(1):2198 (2022)

Allele T

OR 0.02

p 1.0e-26

N 575,531

Large GWAS

European

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele T

OR 0.02

p 8.0e-23

N 575,531

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.02

p 1.0e-17

N 436,491

Large GWAS

multi-ancestry

Han X et al. “Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration.” European Journal of Epidemiology 35(2):139-146 (2020)

Allele T

OR 0.02

p 5.0e-23

N 418,642

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.02

p 5.0e-20

N 394,642

Large GWAS

European

primary biliary cirrhosis

Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)

Allele C

OR 0.18

p 1.0e-16

N 24,510

Meta-analysisLarge GWAS

European

Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)

Allele C

OR 1.22

p 2.0e-9

N 13,239

Meta-analysisLarge GWAS

European

Liu JZ et al. “Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 44(10):1137-41 (2012)

Allele C

OR 1.27

p 1.0e-14

N 11,375

Large GWAS

European

biliary liver cirrhosis

Mells GF et al. “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 43(4):329-32 (2011)

Allele C

OR 1.22

p 2.0e-9

N 7,003

Large GWAS

European

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ClinVar annotation

Risk Factor★★★☆

17 submitters4 publications

Associated with severe COVID-19 disease; Autoinflammatory syndrome; Multiple sclerosis, susceptibility to, 5 (MS5); Susceptibility to severe coronavirus disease (COVID-19); Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6; TNF receptor-associated periodic fever syndrome (TRAPS) (FPF); not specified

View on ClinVar →

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Research that mentions this SNP (2)

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Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci

Meta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology

This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.

Traits studied:Celiac diseaseCrohn's diseaseMultiple sclerosisPsoriasisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesUlcerative colitis

PubMed DOI Metascience Observatory

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SNP/haplotype associations in cytokine and cytokine receptor genes and immunity to rubella vaccine

AssociationN=738Neelam Dhiman et al.(2010)· Immunogenetics

A candidate gene study of 738 healthy children examined associations between SNPs/haplotypes in cytokine and cytokine receptor genes and immune response to rubella vaccination. SNPs rs2844482 and rs2857708 in the TNFA promoter were associated with increased rubella-specific IgG antibodies (p=0.0002 and p=0.001, respectively). Multiple SNPs in TNFRSF1B and IL12B genes were associated with IL-6 secretion levels, and the TNFA haplotype AAACGGGGC was associated with higher rubella antibody response (t-statistic=3.32, p<0.001).

Traits studied:GM-CSF secretionIFN-gamma secretionIL-2 secretionIL-6 secretionRubella vaccination immune responseRubella-specific IgG antibody responseTNF-alpha secretion

PubMed DOI Metascience Observatory

About TNFRSF1A

This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]

rs1800693

GWAS Catalog Trait Associations (4)

multiple sclerosis

C-reactive protein measurement

primary biliary cirrhosis

biliary liver cirrhosis

ClinVar annotation

Research that mentions this SNP (2)

About TNFRSF1A

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