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rs2233434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs2233434(C;C)
Make rs2233434(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position44265183
GeneNFKBIE
is asnp
is mentioned by
dbSNPrs2233434
ebirs2233434
HLIrs2233434
Exacrs2233434
Varsomers2233434
Maprs2233434
PheGenIrs2233434
hapmaprs2233434
1000 genomesrs2233434
hgdprs2233434
ensemblrs2233434
gopubmedrs2233434
geneviewrs2233434
scholarrs2233434
googlers2233434
pharmgkbrs2233434
gwascentralrs2233434
openSNPrs2233434
23andMers2233434
23andMe allrs2233434
SNP Nexus

SNPshotrs2233434
SNPdbers2233434
MSV3drs2233434
GWAS Ctlgrs2233434
GMAF0.07392
Max Magnitude0
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 22446963]
Trait
Title Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
Risk Allele G
P-val 6E-19
Odds Ratio 1.1900 None


GET Evidence
NFKBIE-V194A
aa_change Val194Ala
aa_change_short V194A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0422395
summary



GWAS snp
PMID [PMID 23028356OA-icon.png]
Trait Rheumatoid arthritis
Title Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese.
Risk Allele G
P-val 1E-15
Odds Ratio 1.20 [1.15-1.26]


[PMID 26587663] Impaired NFKBIE Gene Function decreases Cellular Uptake of Methotrexate by Down-regulating SLC19A1 Expression in a Human Rheumatoid Arthritis Cell Line