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rs4728142

From SNPedia

Orientationplus
Stabilizedplus
Make rs4728142(A;A)
Make rs4728142(A;G)
Make rs4728142(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position128933913
is asnp
is mentioned by
dbSNPrs4728142
ebirs4728142
HLIrs4728142
Exacrs4728142
Varsomers4728142
Maprs4728142
PheGenIrs4728142
hapmaprs4728142
1000 genomesrs4728142
hgdprs4728142
ensemblrs4728142
gopubmedrs4728142
geneviewrs4728142
scholarrs4728142
googlers4728142
pharmgkbrs4728142
gwascentralrs4728142
openSNPrs4728142
23andMers4728142
23andMe allrs4728142
SNP Nexus

SNPshotrs4728142
SNPdbers4728142
MSV3drs4728142
GWAS Ctlgrs4728142
GMAF0.2961
Max Magnitude
? (A;A) (A;G) (G;G) 28
[PMID 18285424OA-icon.png] rs4728142, rs3807306 and a 5 bp insertion-deletion linked multiple sclerosis in three populations
GWAS snp
PMID [PMID 19838193]
Trait Systemic lupus erythematosus
Title Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus
Risk Allele A
P-val 8E-19
Odds Ratio 1.43 [1.32-1.54]
OMIM612251
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21297633OA-icon.png]
Trait
Title Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Risk Allele A
P-val 2E-8
Odds Ratio 1.0700 [1.03-1.11]


[PMID 21471993] Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferon? therapy in multiple sclerosis


[PMID 22440820OA-icon.png] IRF5 polymorphism predicts prognosis in patients with systemic sclerosis

[PMID 17412832OA-icon.png] Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.

[PMID 19772658OA-icon.png] Exon expression in lymphoblastoid cell lines from subjects with schizophrenia before and after glucose deprivation.

[PMID 20169177OA-icon.png] Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.

[PMID 20383147OA-icon.png] Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

[PMID 20479942OA-icon.png] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.

[PMID 20691091OA-icon.png] Survival dimensionality reduction (SDR): development and clinical application of an innovative approach to detect epistasis in presence of right-censored data.

[PMID 20861862] Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection.

[PMID 22257839OA-icon.png] A two-marker haplotype in the IRF5 gene is associated with inflammatory bowel disease in a North American cohort.


GET Evidence
rs4728142
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.289062
summary



[PMID 23372721OA-icon.png] The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis

GWAS snp
PMID [PMID 23128233OA-icon.png]
Trait Ulcerative colitis
Title Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Risk Allele A
P-val 4E-14
Odds Ratio 1.10 [1.066-1.143]


[PMID 23971939] IRF5, but not TLR4, DEFEB1, or VDR, is associated with the risk of ulcerative colitis in a Han Chinese population


[PMID 23023776OA-icon.png] European genetic ancestry is associated with a decreased risk of lupus nephritis.


[PMID 25205108] The IRF5-TNPO3 association with systemic lupus erythematosus (SLE) has two components that other autoimmune disorders variably share

GWAS snp
PMID [PMID 24871463OA-icon.png]
Trait Systemic lupus erythematosus
Title GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
Risk Allele A
P-val 7E-10
Odds Ratio 1.45 [1.368-1.55]


[PMID 25337792OA-icon.png] Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population


[PMID 26398853] Identification of Ten Additional Susceptibility Loci for Ulcerative Colitis Through Immunochip Analysis in Koreans