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rs9888739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs9888739(C;T)
Make rs9888739(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position31301932
GeneITGAM
is asnp
is mentioned by
dbSNPrs9888739
ebirs9888739
HLIrs9888739
Exacrs9888739
Varsomers9888739
Maprs9888739
PheGenIrs9888739
hapmaprs9888739
1000 genomesrs9888739
hgdprs9888739
ensemblrs9888739
gopubmedrs9888739
geneviewrs9888739
scholarrs9888739
googlers9888739
pharmgkbrs9888739
gwascentralrs9888739
openSNPrs9888739
23andMers9888739
23andMe allrs9888739
SNP Nexus

SNPshotrs9888739
SNPdbers9888739
MSV3drs9888739
GWAS Ctlgrs9888739
GMAF0.2172
Max Magnitude0
? (C;C) (C;T) (T;T) 28

The T allele of rs9888739 is associated with higher risk of systemic lupus erythematosus.

NEJM a combined analysis of the 7380 independent samples generated a maximum combined P=2.02x10–26 and an odds ratio of 1.65 for the association between the T allele of rs9888739 and lupus.

GWAS
SNP rs9888739
PubMedID [PMID 18204446OA-icon.png]
Condition Systemic lupus erythematosus in women
Gene ITGAM
Risk Allele T
pValue 2.00E-023
OR 1.62
95% CI 1.47-1.78



GWAS snp
PMID [PMID 21408207OA-icon.png]
Trait
Title Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti-dsDNA Autoantibody Production
Risk Allele T
P-val 1E-15
Odds Ratio 1.8000 [1.56-2.07]


[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.


[PMID 19129174OA-icon.png] Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).


[PMID 19286673OA-icon.png] ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai.


[PMID 20629846] Association of ITGAM polymorphism with systemic lupus erythematosus: a meta-analysis.


[PMID 21379322OA-icon.png] Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.


GET Evidence
rs9888739
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.289062
summary



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 T
P-val 4E-11
Odds Ratio 1.64 [1.512-1.78]