Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1267969615
rs1267969615
ACE
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs28936379
rs28936379
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs1800566
rs1800566
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs1801278
rs1801278
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs1799883
rs1799883
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs137852783
rs137852783
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs137852784
rs137852784
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs1169305
rs1169305
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs587778393
rs587778393
CUI: C0011849
Disease: Diabetes Mellitus
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

dbSNP: rs142318174
rs142318174
CUI: C0011849
Disease: Diabetes Mellitus
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

dbSNP: rs1406167595
rs1406167595
CUI: C0011849
Disease: Diabetes Mellitus
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

dbSNP: rs1800562
rs1800562
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs1799945
rs1799945
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.080 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
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs779271027
rs779271027
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 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: rs763010207
rs763010207
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 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: rs754907741
rs754907741
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 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: rs143517122
rs143517122
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 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: rs1240512008
rs1240512008
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 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: rs1063856
rs1063856
VWF
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation BEFREE Three known vWF gene polymorphisms were genotyped in a group of 493 type I diabetic subjects, all showing proliferative retinopathy, but with various stages of renal involvement, which ranged from no microalbuminuria, despite a mean duration of diabetes of 31 years, to advanced nephropathy (GENEDIAB Study): Thr789Ala (Rsa I), M-/M+ (Msp I) (intron 19), and Ala1381Thr (Hph I). 10760079

2000

dbSNP: rs137853240
rs137853240
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
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: rs1805192
rs1805192
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.100 GeneticVariation BEFREE These results suggest that the Pro</span>12Ala 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: rs1801282
rs1801282
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.100 GeneticVariation BEFREE These results suggest that the Pro</span>12Ala 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: rs5443
rs5443
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.040 GeneticVariation BEFREE G-protein beta(3)-subunit C825T genotype and nephropathy in diabetes mellitus. 10978395

2000