|
rs137853247
|
HNF1A;HNF1A-AS1
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137853247
|
HNF1A;HNF1A-AS1
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137853247
|
HNF1A;HNF1A-AS1
|
Chromophobe Renal Cell Carcinoma
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1566092470
|
HNF1A;HNF1A-AS1
|
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs193922578
|
HNF1A;HNF1A-AS1
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs193922588
|
HNF1A;HNF1A-AS1
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs193922592
|
HNF1A;HNF1A-AS1
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs193922593
|
HNF1A;HNF1A-AS1
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs193922594
|
HNF1A;HNF1A-AS1
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs774637975
|
HNF1A;HNF1A-AS1
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs142318174
|
HNF1A;HNF1A-AS1
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
A 5-nucleotide insertion in intron 1 was present in both diabetic members of a small family, but Gly52Ala, Gly574Ser, and the intron 10 mutation did not segregate with diabetes.
|
10690959 |
2000 |
|
rs142318174
|
HNF1A;HNF1A-AS1
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
A 5-nucleotide insertion in intron 1 was present in both diabetic members of a small family, but Gly52Ala, Gly574Ser, and the intron 10 mutation did not segregate with diabetes.
|
10690959 |
2000 |
|
rs587778393
|
HNF1A;HNF1A-AS1
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
A 5-nucleotide insertion in intron 1 was present in both diabetic members of a small family, but Gly52Ala, Gly574Ser, and the intron 10 mutation did not segregate with diabetes.
|
10690959 |
2000 |
|
rs587778393
|
HNF1A;HNF1A-AS1
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
A 5-nucleotide insertion in intron 1 was present in both diabetic members of a small family, but Gly52Ala, Gly574Ser, and the intron 10 mutation did not segregate with diabetes.
|
10690959 |
2000 |
|
rs1320041799
|
HNF1A;HNF1A-AS1
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
The D76N variant was found in one MODY3 family (S315fsinsA of HNF1alpha) and also in two families with late-onset Type II diabetes.
|
11270685 |
2001 |
|
rs1800574
|
HNF1A;HNF1A-AS1
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.850 |
GeneticVariation |
BEFREE |
Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have been postulated to influence the development of type 2 diabetes.
|
15277395 |
2004 |
|
rs1169288
|
HNF1A;HNF1A-AS1
|
Maturity onset diabetes mellitus in young
|
|
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 |
|
rs1920792
|
HNF1A-AS1
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
Several SNPs from the coding region and 5' of the gene demonstrated nominal association with type 2 diabetes, with the most significant marker (rs1920792) having an odds ratio of 1.17 and a P value of 0.002.
|
16046299 |
2005 |
|
rs1800574
|
HNF1A;HNF1A-AS1
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.850 |
GeneticVariation |
BEFREE |
We studied the effect of four common polymorphisms (rs1920792, I27L, A98V and S487N) in and upstream of the HNF-1alpha gene on transcriptional activity in vitro, and their possible association with type 2 diabetes and insulin secretion in vivo.
|
17033837 |
2006 |
|
rs1169288
|
HNF1A;HNF1A-AS1
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.780 |
GeneticVariation |
BEFREE |
In a new case-control (n = 1,511 and n = 2,225 respectively) data set, the I27L polymorphism was associated with increased risk of type 2 diabetes, odds ratio (OR) = 1.5 (p = 0.002; multiple logistic regression), particularly in elderly (age > 60 years) and overweight (BMI > 25 kg/m(2)) patients (OR = 2.3, p = 0.002).
|
17033837 |
2006 |
|
rs1169288
|
HNF1A;HNF1A-AS1
|
Gestational Diabetes
|
|
0.020 |
GeneticVariation |
BEFREE |
The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.
|
16752173 |
2006 |
|
rs137853247
|
HNF1A;HNF1A-AS1
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
Of these, three variants (-8 G > A, -128 T > G and IVS2 + 21 G > A) were not observed in 80 healthy controls and one of them (-8 G > A) was not reported previously and the two promoter variants co-segregated with diabetes.
|
16834925 |
2006 |
|
rs137853247
|
HNF1A;HNF1A-AS1
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
Of these, three variants (-8 G > A, -128 T > G and IVS2 + 21 G > A) were not observed in 80 healthy controls and one of them (-8 G > A) was not reported previously and the two promoter variants co-segregated with diabetes.
|
16834925 |
2006 |
|
rs1388926124
|
HNF1A;HNF1A-AS1
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
Although the E23K variant rs5219 in KCNJ11 showed no association with diabetes in Japanese (for the K allele, odds ratio [OR] 1.08 [95% CI 0.97-1.21], P = 0.15), 95% CI around the OR overlaps in meta-analysis of European populations, suggesting that our results are not inconsistent with the previous studies.
|
16873704 |
2006 |
|
rs1388926124
|
HNF1A;HNF1A-AS1
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
Although the E23K variant rs5219 in KCNJ11 showed no association with diabetes in Japanese (for the K allele, odds ratio [OR] 1.08 [95% CI 0.97-1.21], P = 0.15), 95% CI around the OR overlaps in meta-analysis of European populations, suggesting that our results are not inconsistent with the previous studies.
|
16873704 |
2006 |