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rs4149584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs4149584(A;A)
Make rs4149584(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position6333477
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs4149584
dbSNP (classic)rs4149584
ClinGenrs4149584
ebirs4149584
HLIrs4149584
Exacrs4149584
Gnomadrs4149584
Varsomers4149584
LitVarrs4149584
Maprs4149584
PheGenIrs4149584
Biobankrs4149584
1000 genomesrs4149584
hgdprs4149584
ensemblrs4149584
geneviewrs4149584
scholarrs4149584
googlers4149584
pharmgkbrs4149584
gwascentralrs4149584
openSNPrs4149584
23andMers4149584
SNPshotrs4149584
SNPdbers4149584
MSV3drs4149584
GWAS Ctlgrs4149584
GMAF0.01102
Max Magnitude0
? (A;A) (A;G) (G;G) 28


rs4149584 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, rs4149584, was less common but was associated with more risk; the odds ratio is reported as 1.6.10.1038/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 T
P-val 0.000005
Odds Ratio 1.58 [1.15-2.17]


[PMID 20430450] Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain

OMIM142680
Desc
Variant
Relatedalso
OMIM191190
Desc
Variant0007
Relatedalso


ClinVar
Risk rs4149584(A;A) rs4149584(C;C)
Alt rs4149584(A;A) rs4149584(C;C)
Reference Rs4149584(G;G)
Significance Pathogenic
Disease TNF receptor-associated periodic fever syndrome (TRAPS) not specified not provided
Variation info
Gene TNFRSF1A
CLNDBN TNF receptor-associated periodic fever syndrome (TRAPS) not specified not provided
Reversed 1
HGVS NC_000012.11:g.6442643C>G; NC_000012.11:g.6442643C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013134.23, RCV000200263.1, RCV000222279.3, RCV000487915.1,



[PMID 20405052OA-icon.png] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.


[PMID 20811626OA-icon.png] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.


[PMID 11175303] Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.


[PMID 23624563] TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple sclerosis.


[PMID 30009568] TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population.