Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HNF1A

Gene name: HNF1 homeobox A
OMIM ID: 142410
Chromosome location: 12q24.31

Polymorphisms

Disease/PhenotypeDiabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcriptNM_003733.2
DNA Changec.1047+1107A>T
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Reference SNPrs7957197
Cases1193 T2D cases
Controls1055 normoglycaemic controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T85.1%81.6%Log-additive: 1.27 (1.06-1.49)0.01
CommentsPolymorphism associated with type 2 diabetes in the Moroccan sample population
ReferenceCauchi 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.