Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114202595
rs114202595
PAX4
0.850 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs114202595
rs114202595
PAX4
0.850 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs121918673
rs121918673
HNF1B
0.810 GeneticVariation UNIPROT The S465R mutation was found in 0.5% of our patients with common type 2 diabetes and thus may be a rare genetic risk factor contributing to the development of type 2 diabetes rather than MODY5. 12161522

2002
dbSNP: rs121918673
rs121918673
HNF1B
0.810 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs121918673
rs121918673
HNF1B
0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs104893649
rs104893649
NEUROD1 ; CERKL
0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs104893649
rs104893649
NEUROD1 ; CERKL
0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs104893649
rs104893649
NEUROD1 ; CERKL
0.800 GeneticVariation UNIPROT Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. 10545951

1999
dbSNP: rs119489103
rs119489103
MAPK8IP1
0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs119489103
rs119489103
MAPK8IP1
0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs121434593
rs121434593
AKT2
0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs121434593
rs121434593
AKT2
0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs121434593
rs121434593
AKT2
0.800 GeneticVariation UNIPROT Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. 19164855

2009
dbSNP: rs121434593
rs121434593
AKT2
0.800 GeneticVariation UNIPROT A family with severe insulin resistance and diabetes due to a mutation in AKT2. 15166380

2004
dbSNP: rs121913150
rs121913150
INSR
0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs121913150
rs121913150
INSR
0.800 GeneticVariation UNIPROT [Insulin receptor Arg1131-->Gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes]. 1470163

1992
dbSNP: rs121913150
rs121913150
INSR
0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs121913150
rs121913150
INSR
0.800 GeneticVariation UNIPROT Frequency of mutations of insulin receptor gene in Japanese patients with NIDDM. 7657032

1995
dbSNP: rs121913150
rs121913150
INSR
0.800 GeneticVariation UNIPROT NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076

1992
dbSNP: rs121434581
rs121434581
SLC2A4
0.700 GeneticVariation UNIPROT Insulin receptor and insulin-responsive glucose transporter (GLUT 4) mutations and polymorphisms in a Welsh type 2 (non-insulin-dependent) diabetic population. 1521731

1992
dbSNP: rs121434581
rs121434581
SLC2A4
0.700 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs121434581
rs121434581
SLC2A4
0.700 GeneticVariation UNIPROT Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (GLUT-4) in patients with common-type non-insulin-dependent diabetes mellitus. 1918382

1991
dbSNP: rs121434581
rs121434581
SLC2A4
0.700 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs121434581
rs121434581
SLC2A4
0.700 GeneticVariation UNIPROT Molecular scanning of insulin-responsive glucose transporter (GLUT4) gene in NIDDM subjects. 1756912

1991
dbSNP: rs137853337
rs137853337
HNF4A
0.700 GeneticVariation UNIPROT A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus. 9449683

1998