Sequence and Structural Characterization of Toll-Like Receptor 6 from Human and Related Species

Table 1

Distribution, polymorphism, and clinical significance of alleles of human TLR6 gene.

Sr. no.	Reference SNP	Variant type	Alleles	Functional consequence	Clinical significance	Allele frequency (global)^†		Population with highest Alt allele frequency
						Ref allele	Alt allele
1	rs5743812	SNV	T>C	Coding sequence variant, synonymous variant	Benign			African American ()
2	rs5743816	SNV	C>T	Missense variant, coding sequence variant	Benign			European ()
3	rs75244616	SNV	C>A	Missense variant, coding sequence variant	Benign			South Asian ()
4	rs863223364	DEL	AT>-	Frameshift variant, coding sequence variant	Benign	NA	NA	NA

SNV: single nucleotide variation; DEL: deletion; NA: not available. ^†The ALFA project provides aggregate allele frequency from database of Genotypes and Phenotypes (dbGaP).