Gene: HNF1A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555212248
rs1555212248
HNF1A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
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
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
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
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
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
dbSNP: rs1057520504
rs1057520504
HNF1A
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
dbSNP: rs1057520504
rs1057520504
HNF1A
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
dbSNP: rs1800574
rs1800574
HNF1A ; HNF1A-AS1
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
dbSNP: rs1172328722
rs1172328722
HNF1A
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
dbSNP: rs1057520779
rs1057520779
HNF1A
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
dbSNP: rs753998395
rs753998395
HNF1A
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
dbSNP: rs193922600
rs193922600
HNF1A
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
dbSNP: rs137853243
rs137853243
HNF1A
0.010 GeneticVariation BEFREE MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X). 11162430

2000