KCNQ1

Gene name: potassium voltage-gated channel, KQT-like subfamily, member 1
OMIM ID: 607542
Chromosome location: 11p15.5-p1

Polymorphisms

Disease/Phenotype	Diabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcript	NM_000218.2
DNA Change	c.1514+8160A>G
A.A. Change
Exon/Intron	Intron
Variation Type	substitution
Reference SNP	rs231362
Cases	1193 T2D cases
Controls	1055 normoglycaemic controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value G 54.9% 53.2% Dominant : 1.23 (0.98-1.54) 0.07
Comments	Polymorphism associated with type 2 diabetes in the Moroccan sample population
Reference	Cauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel P.European genetic variants associated with type 2 diabetes in North African Arabs. Diabetes Metab. 2012 Mar 29.

---

Disease/Phenotype	Diabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcript	NM_000218.2
DNA Change	c.1795-19467A>C
A.A. Change
Exon/Intron	Intron
Variation Type	substitution
Reference SNP	rs2283228
Cases	1193 T2D cases
Controls	1055 normoglycaemic controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value A 95.1% 94.6% Dominant : 1.72 (0.32-9.09) 0.53
Comments	Polymorphism associated with type 2 diabetes in the Moroccan sample population
Reference	Cauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel P.European genetic variants associated with type 2 diabetes in North African Arabs. Diabetes Metab. 2012 Mar 29.

---