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rs5743809

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a likely mutation for Kawasaki disease
(T;T) 0 common/normal


Make rs5743809(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome4
Position38828893
GeneTLR6
is asnp
is mentioned by
dbSNPrs5743809
dbSNP (classic)rs5743809
ClinGenrs5743809
ebirs5743809
HLIrs5743809
Exacrs5743809
Gnomadrs5743809
Varsomers5743809
LitVarrs5743809
Maprs5743809
PheGenIrs5743809
Biobankrs5743809
1000 genomesrs5743809
hgdprs5743809
ensemblrs5743809
geneviewrs5743809
scholarrs5743809
googlers5743809
pharmgkbrs5743809
gwascentralrs5743809
openSNPrs5743809
23andMers5743809
SNPshotrs5743809
SNPdbers5743809
MSV3drs5743809
GWAS Ctlgrs5743809
Max Magnitude3
? (C;C) (C;T) (T;T) 28


rs5743809, also known as p.Leu194Pro, represents an infrequent variant in the TLR6 gene.

It is reported as likely to be causative, when inherited recessively (or as a compound heterozygote), for Kawasaki disease.[PMID 28151979OA-icon.png]