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rs12722477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs12722477(A;A)
Make rs12722477(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position29828599
GeneHLA-G
is asnp
is mentioned by
dbSNPrs12722477
ebirs12722477
HLIrs12722477
Exacrs12722477
Varsomers12722477
Maprs12722477
PheGenIrs12722477
hapmaprs12722477
1000 genomesrs12722477
hgdprs12722477
ensemblrs12722477
gopubmedrs12722477
geneviewrs12722477
scholarrs12722477
googlers12722477
pharmgkbrs12722477
gwascentralrs12722477
openSNPrs12722477
23andMers12722477
23andMe allrs12722477
SNP Nexus

SNPshotrs12722477
SNPdbers12722477
MSV3drs12722477
GWAS Ctlgrs12722477
GMAF0.1942
Max Magnitude0
? (A;A) (A;C) (C;C) 28
[PMID 18976687] rs12722477, also known as Leu134Ile, a SNP of the HLA-G gene, was significantly associated with Kawasaki disease (odds ratio 3.23, CI = 1.12-9.32), based on an initial study of 48 cases and a replication study with 44 cases.


GET Evidence
HLA-G-L134I
aa_change Leu134Ile
aa_change_short L134I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.141888
summary