rs5743809
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a likely mutation for Kawasaki disease |
(T;T) | 0 | common/normal |
Make rs5743809(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 4 |
Position | 38828893 |
Gene | TLR6 |
is a | snp |
is | mentioned by |
dbSNP | rs5743809 |
dbSNP (classic) | rs5743809 |
ClinGen | rs5743809 |
ebi | rs5743809 |
HLI | rs5743809 |
Exac | rs5743809 |
Gnomad | rs5743809 |
Varsome | rs5743809 |
LitVar | rs5743809 |
Map | rs5743809 |
PheGenI | rs5743809 |
Biobank | rs5743809 |
1000 genomes | rs5743809 |
hgdp | rs5743809 |
ensembl | rs5743809 |
geneview | rs5743809 |
scholar | rs5743809 |
rs5743809 | |
pharmgkb | rs5743809 |
gwascentral | rs5743809 |
openSNP | rs5743809 |
23andMe | rs5743809 |
SNPshot | rs5743809 |
SNPdbe | rs5743809 |
MSV3d | rs5743809 |
GWAS Ctlg | rs5743809 |
Max Magnitude | 3 |
? | (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 28151979]