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Table 1 INS gene variants identified in MODY (n = 116), T1DM (n = 34), GDM (n = 83) and controls (n = 96)

From: Further evidence that mutations in INScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

      MAF (%)   
rs number SNP Position on chr. 11 Part of gene MODY
(n= 116)
T1D ab-
(n= 34)
GDM
(n= 83)
Controls
(n= 92)
Novel c.-218A>C 2.138.995 5'UTR 0.4 0 0 0
rs689 c.-23A>T 2.138.800 Intron 27 10 33 28
rs5505 c.-9C>T 2.138.786 5'UTR 0.9 0 0.6 0A
Novel c.17G>A, p.R6H 2.138.761 Exon 0.4 0 0 0
Novel c.137 G>A, p.R46Q 2.138.641 Exon 0.4 0 0 0
rs3842752 c.*9C>T 2.137.649 3'UTR 20 7 27 21
rs3842753 c.*22C>A 2.137.636 3'UTR 26 10 34 28
  1. SNP locations (-strand) are displayed counting from the first translated nucleotide in pre-proinsulin (INS). Base-pair positions are displayed counting from the p-arm telomere of chromosome 11 (according to the Base position feature in the Human (Homo sapiens) Genome Browser Gateway Human Mar. 2006 [hg18] assembly (http://genome.ucsc.edu/cgi-bin/hgGateway, assessed 19 June 2009). Minor allele frequencies (MAF) are given as a percentage.
  2. A) Subsequent genotyping of 198 population-based individuals revealed a MAF of 0.7%
  3. Control individuals were collected as a subset of the population based study Inter99 of middle-aged Danish individuals.