rs35220466
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | Carrier of a likely mutation for Kawasaki disease |
Make rs35220466(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 4 |
Position | 38828734 |
Gene | TLR6 |
is a | snp |
is | mentioned by |
dbSNP | rs35220466 |
dbSNP (classic) | rs35220466 |
ClinGen | rs35220466 |
ebi | rs35220466 |
HLI | rs35220466 |
Exac | rs35220466 |
Gnomad | rs35220466 |
Varsome | rs35220466 |
LitVar | rs35220466 |
Map | rs35220466 |
PheGenI | rs35220466 |
Biobank | rs35220466 |
1000 genomes | rs35220466 |
hgdp | rs35220466 |
ensembl | rs35220466 |
geneview | rs35220466 |
scholar | rs35220466 |
rs35220466 | |
pharmgkb | rs35220466 |
gwascentral | rs35220466 |
openSNP | rs35220466 |
23andMe | rs35220466 |
SNPshot | rs35220466 |
SNPdbe | rs35220466 |
MSV3d | rs35220466 |
GWAS Ctlg | rs35220466 |
Max Magnitude | 3 |
rs35220466, also known as p.Arg247Lys, 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]