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rs3130062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs3130062(C;C)
Make rs3130062(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31558135
GeneNFKBIL1
is asnp
is mentioned by
dbSNPrs3130062
ebirs3130062
HLIrs3130062
Exacrs3130062
Varsomers3130062
Maprs3130062
PheGenIrs3130062
hapmaprs3130062
1000 genomesrs3130062
hgdprs3130062
ensemblrs3130062
gopubmedrs3130062
geneviewrs3130062
scholarrs3130062
googlers3130062
pharmgkbrs3130062
gwascentralrs3130062
openSNPrs3130062
23andMers3130062
23andMe allrs3130062
SNP Nexus

SNPshotrs3130062
SNPdbers3130062
MSV3drs3130062
GWAS Ctlgrs3130062
GMAF0.02938
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene NFKBIL1
allele T
frequency 0.883
sift TOLERATED
HuRef 1103652826824
Disease Association Mutations in the promoter region of NFKBIL1 represent the second rheumatoid arthritis susceptibility locus within the HLA region (MIM:180300).



[PMID 19886988OA-icon.png] Association of polymorphism in genes encoding kappaB inhibitors (IkappaB) with susceptibility to and phenotype of Graves' disease: a case-control study.


GET Evidence
NFKBIL1-R224C
aa_change Arg224Cys
aa_change_short R224C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.951317
summary