Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4994
rs4994
0.030 GeneticVariation BEFREE A tryptophan to arginine (Trp64Arg) mutation in the beta 3-adrenergic receptor (beta 3-AR) gene has been implicated in diabetes and obesity. 8826971

1996

dbSNP: rs1444739794
rs1444739794
GCK
0.010 GeneticVariation BEFREE The V62A mutation, which has not been previously reported, cosegregated with diabetes in the N2 family. 9736233

1998

dbSNP: rs1267969615
rs1267969615
ACE
0.070 GeneticVariation BEFREE Relative nocturnal systolic and diastolic pressures in patients with diabetes were higher than in healthy age- and height-matched controls; no association was found with the angiotensinogen gene M235T polymorphism. 9950302

1999

dbSNP: rs1267969615
rs1267969615
ACE
0.070 GeneticVariation BEFREE We examined angiotensin-converting enzyme (ACE) DD/II and angiotensinogen (Atg) M235T polymorphism in a cohort of Chinese patients with type II diabetes with an average duration of diabetes of 14 years. 10352194

1999

dbSNP: rs699
rs699
AGT
0.070 GeneticVariation BEFREE We examined angiotensin-converting enzyme (ACE) DD/II and angiotensinogen (Atg) M235T polymorphism in a cohort of Chinese patients with type II diabetes with an average duration of diabetes of 14 years. 10352194

1999

dbSNP: rs699
rs699
AGT
0.070 GeneticVariation BEFREE Relative nocturnal systolic and diastolic pressures in patients with diabetes were higher than in healthy age- and height-matched controls; no association was found with the angiotensinogen gene M235T polymorphism. 9950302

1999

dbSNP: rs1801278
rs1801278
0.050 GeneticVariation BEFREE The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and the Ala54Thr variant of the fatty acid binding protein 2 (FABP2) gene were compared in 992 normal control subjects and three patient groups: 1) 321 type 2 diabetic individuals, 2) 260 severely obese individuals, and 3) 258 markedly hyperinsulinemic individuals without diabetes. 10480621

1999

dbSNP: rs137852783
rs137852783
0.040 GeneticVariation BEFREE The lower penetrance D76N and Q59L mutations were more prevalent and were associated with a relative risk of 12.6 for diabetes and with decreased glucose-stimulated insulin-secretion in nondiabetic subjects. 10545531

1999

dbSNP: rs1799883
rs1799883
0.030 GeneticVariation BEFREE The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and the Ala54Thr variant of the fatty acid binding protein 2 (FABP2) gene were compared in 992 normal control subjects and three patient groups: 1) 321 type 2 diabetic individuals, 2) 260 severely obese individuals, and 3) 258 markedly hyperinsulinemic individuals without diabetes. 10480621

1999

dbSNP: rs137852784
rs137852784
0.020 GeneticVariation BEFREE The lower penetrance D76N and Q59L mutations were more prevalent and were associated with a relative risk of 12.6 for diabetes and with decreased glucose-stimulated insulin-secretion in nondiabetic subjects. 10545531

1999

dbSNP: rs1800566
rs1800566
0.020 GeneticVariation BEFREE No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in Childhood. 10447260

1999

dbSNP: rs1258159645
rs1258159645
0.010 GeneticVariation BEFREE No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in Childhood. 10447260

1999

dbSNP: rs2229616
rs2229616
0.010 GeneticVariation BEFREE These results suggest that mutations including V103I in the MC4R gene are not a major cause of obesity or diabetes in Japanese. 11246450

1999

dbSNP: rs28936379
rs28936379
0.010 GeneticVariation BEFREE Localisation of presenilin 2 in human and rodent pancreatic islet beta-cells; Met239Val presenilin 2 variant is not associated with diabetes in man. 10362543

1999

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C282Y) mutation and 25 (11.3%) were heterozygous for the same mutation, of whom 3 (1.3%) were compound heterozygotes also carrying the HFE 187G (H63D) mutation. 10695662

2000

dbSNP: rs1801282
rs1801282
0.100 GeneticVariation BEFREE These results suggest that the Pro12Ala mutation in PPARgamma is not associated with either diabetes or obesity and may not be an important determinant of obesity or diabetes in Korean subjects. 10843155

2000

dbSNP: rs1805192
rs1805192
0.100 GeneticVariation BEFREE These results suggest that the Pro12Ala mutation in PPARgamma is not associated with either diabetes or obesity and may not be an important determinant of obesity or diabetes in Korean subjects. 10843155

2000

dbSNP: rs137853240
rs137853240
0.090 GeneticVariation BEFREE Despite the failure of linkage analysis to identify HNF1A as a determinant of type 2 diabetes, we feel justified in interpreting that G319S has a very important pathogenic role in Oji-Cree diabetes, based upon the highly suggestive association studies. 10807546

2000

dbSNP: rs1799945
rs1799945
0.070 GeneticVariation BEFREE One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C282Y) mutation and 25 (11.3%) were heterozygous for the same mutation, of whom 3 (1.3%) were compound heterozygotes also carrying the HFE 187G (H63D) mutation. 10695662

2000

dbSNP: rs137852783
rs137852783
0.040 GeneticVariation BEFREE Neither the D76N nor the A140T segregated with diabetes, and their transcriptional activation of the human insulin promoter expressed in vitro was indistinguishable from that of the wild type (115 +/- 21% and 84 +/- 12% vs. 100%). 10720084

2000

dbSNP: rs137852783
rs137852783
0.040 GeneticVariation BEFREE We did not detect the D76N variant, which was the most frequent variant in subjects with a strong family history of diabetes, in patients or controls. 11022198

2000

dbSNP: rs137852785
rs137852785
0.030 GeneticVariation BEFREE Three variants (C18R, Q59L and D76N) were screened by PCR-RFLP in a group of 296 unrelated French late-onset type 2 diabetic subjects consecutively recruited in a diabetes department of a university hospital, regardless of family history of diabetes. 11022198

2000

dbSNP: rs11575937
rs11575937
0.020 GeneticVariation BEFREE We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred. 10999845

2000

dbSNP: rs1169305
rs1169305
0.020 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

dbSNP: rs137852784
rs137852784
0.020 GeneticVariation BEFREE Three variants (C18R, Q59L and D76N) were screened by PCR-RFLP in a group of 296 unrelated French late-onset type 2 diabetic subjects consecutively recruited in a diabetes department of a university hospital, regardless of family history of diabetes. 11022198

2000