rs1800693 is a SNP in the tumor necrosis factor receptor superfamily, member 1A TNFRSF1A gene.
A large study (~5,000 patients) found two SNPs in the TNFRSF1A gene that each (independently) increase risk for multiple sclerosis, rs1800693 and rs4149584. This SNP, rs1800693, is more common but increases risk less; the odds ratio is reported as 1.2 (CI: 1.10-1.31, p=1.6x10(-11)). [PMID 19525953] 10.1038/ng.401
|Title||Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci|
|Odds Ratio||1.20 [1.10-1.31]|
|Title||Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis|
|Odds Ratio||1.2200 [1.14-1.30]|
[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
[PMID 20217072] SNP/haplotype associations in cytokine and cytokine receptor genes and immunity to rubella vaccine.
[PMID 20405052] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
[PMID 22994200] Associations of CD6, TNFRSF1A, and IRF8 polymorphisms with risk of inflammatory demyelinating diseases
|qualified_impact||Insufficiently evaluated pathogenic|
|Title||Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.|
|Odds Ratio||1.12 [1.11-1.14]|
[PMID 23624563] TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple sclerosis.