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rs4963128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs4963128(A;A)
Make rs4963128(A;G)
ReferenceGRCh37 37.1/131
Chromosome11
Position589564
GenePHRF1
is asnp
is mentioned by
dbSNPrs4963128
ebirs4963128
HLIrs4963128
Exacrs4963128
Varsomers4963128
Maprs4963128
PheGenIrs4963128
hapmaprs4963128
1000 genomesrs4963128
hgdprs4963128
ensemblrs4963128
gopubmedrs4963128
geneviewrs4963128
scholarrs4963128
googlers4963128
pharmgkbrs4963128
gwascentralrs4963128
openSNPrs4963128
23andMers4963128
23andMe allrs4963128
SNP Nexus

SNPshotrs4963128
SNPdbers4963128
MSV3drs4963128
GWAS Ctlgrs4963128
GMAF0.2966
Max Magnitude0
? (A;A) (A;G) (G;G) 28
GWAS
SNP rs4963128
PubMedID [PMID 18204446OA-icon.png]
Condition Systemic lupus erythematosus in women
Gene KIAA1542
Risk Allele
pValue 3.00E-010
OR 1.28
95% CI 1.18-1.37


[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors



[PMID 20112359OA-icon.png] Genetic variation at the IRF7/PHRF1 locus is associated with autoantibody profile and serum interferon-alpha activity in lupus patients


[PMID 21165897] Association of a functional IRF7 variant with systemic lupus erythematosus

GWAS snp
PMID [PMID 21408207OA-icon.png]
Trait
Title Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti-dsDNA Autoantibody Production
Risk Allele
P-val 0.000004
Odds Ratio 1.3300 [1.18-1.49]


[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 19442287OA-icon.png] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.


[PMID 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


[PMID 21167895] Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population.


[PMID 21360504OA-icon.png] Association of a functional IRF7 variant with systemic lupus erythematosus.


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


[PMID 21926187OA-icon.png] Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.


[PMID 22433914] Association of PHRF1-IRF7 region polymorphism with clinical manifestations of systemic lupus erythematosus in a Japanese population.


GET Evidence
rs4963128
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.554688
summary