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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.
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BMC Medical Genetics

ISSN: 1471-2350

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