Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy

Table 3 List of genomic variants and their respective minor allele frequency (1000 Genomes, TSI dataset) that have been identified in the proband

Chromosome	Position	dbSNP	Variant	Type	Gene	Effect	MAF	Clinical significance
chr3	10,331,457	rs696217	G/T	Missense	GHRL	p.Leu60Met	0.07	Risk factor for metabolic syndrome and childhood obesity
chr6	132,172,368	rs1044498	A/C	Missense	ENPP1	p.Lys173Gln	0.13	Susceptibility to Insulin resistance
chr4	6,292,915	rs10010131	A/G	Intronic	WFS1		0.36	Type 2 diabetes risk
chr6	149,721,690	rs237025	G/A	Missense	SUMO4	p.Val55Met	0.45	Type 2 diabetes risk, diabetic nephropathy
chr13	110,435,231	rs1805097	C/T	Missense	IRS2	p.Gly1057Asp	0.33	Type 2 diabetes risk
chr11	17,409,572	rs5219	T/C	Missense	KCNJ11	p.Lys23Glu	0.29	Type 2 diabetes risk
chr6	160,113,872	rs4880	A/G	Missense	SOD2	p.Val16Ala	0.47	Diabetic nephropathy
chr2	25,141,538	rs11676272	A/G	Missense	ADCY3	p.Ser107Pro	0.42	Childhood obesity

The variants in this table have been associated with obesity, type 2 diabetes and nephropathy in different studies

ISSN: 1472-6823