rs1800693
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| (A;G) | 1.2 | slight (1.2x) increase in risk for multiple sclerosis |
| (G;G) | 1.4 | slight (1.4x) increase in risk for multiple sclerosis |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 6330843 |
| Gene | TNFRSF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800693 |
| dbSNP (classic) | rs1800693 |
| ClinGen | rs1800693 |
| ebi | rs1800693 |
| HLI | rs1800693 |
| Exac | rs1800693 |
| Gnomad | rs1800693 |
| Varsome | rs1800693 |
| LitVar | rs1800693 |
| Map | rs1800693 |
| PheGenI | rs1800693 |
| Biobank | rs1800693 |
| 1000 genomes | rs1800693 |
| hgdp | rs1800693 |
| ensembl | rs1800693 |
| geneview | rs1800693 |
| scholar | rs1800693 |
| rs1800693 | |
| pharmgkb | rs1800693 |
| gwascentral | rs1800693 |
| openSNP | rs1800693 |
| 23andMe | rs1800693 |
| SNPshot | rs1800693 |
| SNPdbe | rs1800693 |
| MSV3d | rs1800693 |
| GWAS Ctlg | rs1800693 |
| GMAF | 0.3173 |
| Max Magnitude | 1.4 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
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
| GWAS snp | |
|---|---|
| PMID | [PMID 19525953]
|
| Trait | Multiple sclerosis |
| Title | Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci |
| Risk Allele | C |
| P-val | 2E-11 |
| Odds Ratio | 1.20 [1.10-1.31] |
| GWAS snp | |
|---|---|
| PMID | [PMID 21399635]
|
| Trait | |
| Title | Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis |
| Risk Allele | C |
| P-val | 2E-9 |
| 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
| GWAS snp | |
|---|---|
| PMID | [PMID 21833088]
|
| Trait | Multiple sclerosis |
| Title | Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. |
| Risk Allele | G |
| P-val | 4E-14 |
| Odds Ratio | 1.12 [1.11-1.14] |
[PMID 23624563] TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple sclerosis.
[PMID 24790215] Stimulated PBMC-produced IFN-γ and TNF-α are associated with altered relapse risk in multiple sclerosis: results from a prospective cohort study
[PMID 25010932] Association of TNF-α, TNFRSF1A and TNFRSF1B Gene Polymorphisms with the Risk of Sporadic Breast Cancer in Northeast Chinese Han Women
| ClinVar | |
|---|---|
| Risk | Rs1800693(G;G) |
| Alt | Rs1800693(G;G) |
| Reference | Rs1800693(A;A) |
| Significance | Other |
| Disease | Multiple sclerosis not specified Familial Periodic Fever |
| Variation | info |
| Gene | TNFRSF1A |
| CLNDBN | Multiple sclerosis, susceptibility to, 5 not specified Familial Periodic Fever |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6440009T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000030698.5, RCV000244183.1, RCV000338370.1, |
[PMID 24927785] No association between identified multiple sclerosis non-MHC risk loci and neuromyelitis optica
[PMID 30009568] TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population.
