| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
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
| GET Evidence
|
| rs1800693
|
| aa_change
|
|
| aa_change_short
|
|
| impact
|
pathogenic
|
| qualified_impact
|
Insufficiently evaluated pathogenic
|
| overall_frequency
|
0.38892
|
| summary
|
|
| 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]
|
