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rs3821236

From SNPedia

risk of Systemic lupus erythematosus
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.1 2x higher risk of lupus
(A;G) 2 1.4x higher risk of lupus
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome2
Position191038032
GeneSTAT4
is asnp
is mentioned by
dbSNPrs3821236
ebirs3821236
HLIrs3821236
Exacrs3821236
Varsomers3821236
Maprs3821236
PheGenIrs3821236
hapmaprs3821236
1000 genomesrs3821236
hgdprs3821236
ensemblrs3821236
gopubmedrs3821236
geneviewrs3821236
scholarrs3821236
googlers3821236
pharmgkbrs3821236
gwascentralrs3821236
openSNPrs3821236
23andMers3821236
23andMe allrs3821236
SNP Nexus

SNPshotrs3821236
SNPdbers3821236
MSV3drs3821236
GWAS Ctlgrs3821236
GMAF0.309
Max Magnitude2.1
? (A;A) (A;G) (G;G) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

GWAS snp
PMID [PMID 18677312]
Trait Systemic lupus erythematosus
Title Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
Risk Allele
P-val 7.9999999999999995E-11
Odds Ratio 1.49 [NR]

CPMC uses this to indicate increased risk of Systemic lupus erythematosus.


[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome

GWAS snp
PMID [PMID 19165918OA-icon.png]
Trait Systemic lupus erythematosus
Title PubMedID=18677312: cannot get document summary
Risk Allele
P-val 7.9999999999999995E-11
Odds Ratio 1.49 [NR]
GWAS snp
PMID [PMID 20383147OA-icon.png]
Trait Systemic sclerosis
Title Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
Risk Allele A
P-val 3E-9
Odds Ratio 1.30 [1.19-1.41]
GWAS snp
PMID [PMID 21779181OA-icon.png]
Trait
Title Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
Risk Allele
P-val 9E-8
Odds Ratio 1.3100 [1.19-1.48]


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


[PMID 18516230OA-icon.png] Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus.


[PMID 18579578OA-icon.png] A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.


[PMID 19019891OA-icon.png] STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk.


[PMID 19287509OA-icon.png] Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.


[PMID 19333953OA-icon.png] High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups.


[PMID 20652065OA-icon.png] Interferon alpha in systemic lupus erythematosus.


[PMID 20722033OA-icon.png] The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.


GET Evidence
rs3821236
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.257812
summary



[PMID 23755762OA-icon.png] STAT4 is a genetic risk factor for systemic sclerosis in a Chinese population