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rs5029939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;G) 1.67x increased risk of Sjogren's syndrome
(G;G) 1.67x increased risk of Sjogren's syndrome
ReferenceGRCh38 38.1/141
Chromosome6
Position137874586
GeneTNFAIP3
is asnp
is mentioned by
dbSNPrs5029939
ebirs5029939
HLIrs5029939
Exacrs5029939
Varsomers5029939
Maprs5029939
PheGenIrs5029939
hapmaprs5029939
1000 genomesrs5029939
hgdprs5029939
ensemblrs5029939
gopubmedrs5029939
geneviewrs5029939
scholarrs5029939
googlers5029939
pharmgkbrs5029939
gwascentralrs5029939
openSNPrs5029939
23andMers5029939
23andMe allrs5029939
SNP Nexus

SNPshotrs5029939
SNPdbers5029939
MSV3drs5029939
GWAS Ctlgrs5029939
GMAF0.123
Max Magnitude0
? (C;C) (C;G) (G;G) 28
An association was found between Systemic lupus erythematosus (SLE) and rs5029939 (meta-analysis p = 2.89 x 10(-12), odds ratio 2.29).[PMID 18677312]
Neighborrs2230926
Distance343
GWAS
SNP rs5029939
PubMedID [PMID 18677312]
Condition Systemic lupus erythematosus
Gene TNFAIP3
Risk Allele
pValue 3.00E-012
OR 2.28
95% CI


[PMID 19387456OA-icon.png] Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations

OMIM612378
DescSYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13; SLEB13
Variant
Relatedalso


GWAS snp
PMID [PMID 19165918OA-icon.png]
Trait Systemic lupus erythematosus
Title PubMedID=18677312: cannot get document summary
Risk Allele
P-val 3E-12
Odds Ratio 2.28 [NR]

[PMID 20511617] Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population



[PMID 21740805] Variants of tumor necrosis factor-induced protein 3 gene are associated with left ventricular hypertrophy in hypertensive patients


[PMID 19169254OA-icon.png] Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19849816OA-icon.png] Genetics of rheumatic disease.


[PMID 20617138OA-icon.png] Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus in a Japanese population.


GET Evidence
rs5029939
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.164062
summary



[PMID 22488580] Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity.


[PMID 22924496] Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis.

GWAS snp
PMID [PMID 24097066]
Trait Sjögren's syndrome
Title A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
Risk Allele G
P-val 8E-9
Odds Ratio 1.67 [1.40-1.99]


[PMID 25806576] The polymorphisms of tumor necrosis factor-induced protein 3 gene may contribute to the susceptibility of chronic primary immune thrombocytopenia in Chinese population


[PMID 26092158] IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups


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