rs1057516317
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
|
27188453 |
2016 |
rs200670692
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.
|
27573238 |
2016 |
rs139964066
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.
|
26180531 |
2015 |
rs1057516317
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
rs1057517420
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
rs139964066
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia.
|
24145932 |
2013 |
rs139964066
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
|
23345197 |
2013 |
rs139964066
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
rs200670692
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
rs200670692
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
|
23345197 |
2013 |
rs200670692
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.
|
23067144 |
2013 |
rs72559716
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.
|
24616771 |
2013 |
rs72559734
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
rs72559734
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
|
23345197 |
2013 |
rs863225280
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
rs151344623
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.
|
21716120 |
2011 |
rs151344624
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.
|
21716120 |
2011 |
rs1057516317
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
rs200670692
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
rs72559716
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex.
|
20427569 |
2010 |
rs72559716
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
rs72559734
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
rs863225280
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
rs72559716
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.
|
18988933 |
2008 |
rs1057516317
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
|
17378627 |
2007 |