Rs1800693

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Orientationplus
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Make rs1800693(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6330843
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs1800693
PheGenIrs1800693
nextbiors1800693
hapmaprs1800693
1000 genomesrs1800693
hgdprs1800693
ensemblrs1800693
gopubmedrs1800693
geneviewrs1800693
scholarrs1800693
googlers1800693
pharmgkbrs1800693
gwascentralrs1800693
openSNPrs1800693
23andMers1800693
23andMe allrs1800693
SNP Nexus

SNPshotrs1800693
SNPdbers1800693
MSV3drs1800693
GMAF0.3173
Max Magnitude
? (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 19525953OA-icon.png] 10.1038/ng.401

GWAS snp
PMID [PMID 19525953OA-icon.png]
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]
OMIM126200
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21399635OA-icon.png]
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 17705862OA-icon.png] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.


[PMID 20217072OA-icon.png] SNP/haplotype associations in cytokine and cytokine receptor genes and immunity to rubella vaccine.


[PMID 20405052OA-icon.png] 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 21833088OA-icon.png]
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