KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus

Table 1

Characteristics of KCNJ11 gene variants in association with diabetes mellitus.

Number	SNP	Location		MAF	Allele	Amino acid	Diabetes	Association	References
		Chromosome	Gene
1	rs2285676	17386478	3′ UTR	0.46	T>C	—	T2DM	Yes	[30]
2	rs5210	17386704	3′ UTR	0.46	G>A	—	T2DM	Yes	[30, 36, 76]
								No	[72, 74]
3	rs5215	17387083	Exon	0.28	G>A	Val250Ile	T2DM	Yes	[27, 30, 35, 36]
								No	[49, 50, 69–72]
							T1DM	No	[73, 74]
							GDM	No	[68]
4	rs5218	17387522	Exon	0.27	C>T	Ala103Ala	T2DM	No	[36]
5	rs5219	17388025	Exon	0.27	G>A	Lys23Gln	T1DM	No	[63, 64]
							T2DM	Yes	[19–43]
								No	[44–64]
							GDM	Yes	[38]
								No	[66–68]
6	rs886288	17389616	5′ near gene	0.46	T>C	—	T2DM	Yes	[36]

MAF: minor allele frequency; T1DM: type 1 diabetes mellitus; T2DM: type 2 diabetes mellitus; GDM: gestational diabetes mellitus; SNP: single nucleotide polymorphism; UTR: untranslated region.