rs1555212248
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137853243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X).
|
11162430 |
2000 |
rs1169288
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene.
|
15031772 |
2004 |
rs193922600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene.
|
15031772 |
2004 |
rs753998395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HNF-1alpha R131Q MODY mutant also retained wild-type Fabp1 activation and bound to HNF-4alpha as well as the wild type but was defective in both suppressing HNF-4alpha APOC3 activation and decreasing HNF-4alpha promoter occupancy.
|
16223942 |
2006 |
rs1057520779
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Microsatellite analysis performed for all R229Q-positive probands of the Norwegian MODY Registry and those found in the HUNT2 population revealed that 17 of 18 (94%) had genotypes consistent with a common haplotype.
|
18513305 |
2008 |
rs1057520504
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This study suggests that mutations in the HNF1A gene comprise about 9% of clinically diagnosed MODY subjects in southern India and a novel Arg263His mutation cosegregates with MODY in one family.
|
19336507 |
2009 |
rs1172328722
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three nonobese subjects in an age range of 14-35 years were diagnosed with HNF1A-MODY (p. Arg159Gln mutation).
|
23548576 |
2013 |
rs1057520504
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The frequency of PTPN22 polymorphisms in the MODY patients was similar to those in geographically matched healthy populations, with the exception of c.788G>A, the minor allele frequency of which was significantly elevated in the Czech hepatocyte nuclear factor 1-α (HNF1A) MODY patients [odds ratio (OR) 4.8, 95% confidence interval (CI) 2.2-10.7] and the Brazilian MODY patients (OR 8.4, 95% CI 1.8-39.1).
|
25896041 |
2015 |
rs1169288
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The Common <i>HNF1A</i> Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
|
29895593 |
2018 |
rs1800574
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesized that common variants at the <i>HNF1A</i> locus (rs1169288 [I27L], rs1800574 [A98V]), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in individuals with HNF1A-MODY.
|
29895593 |
2018 |
rs1169288
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The HNF1A gene p.I27L SNP was modestly associated with having early-onset, MODY-like diabetes in the Turkish population.
|
31109344 |
2019 |