Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11538209
rs11538209
ALB
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE Our data suggest that T29C TGFbeta1 gene polymorphism was associated to clinical characteristics suitable to recognize hypertensives with a higher severity of hypertension. 18821144

2008

dbSNP: rs11538209
rs11538209
ALB
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 GeneticVariation BEFREE Our results suggest that TGF-beta1 T29C polymorphism is not associated with the progression of diabetic nephropathy. 11576951

2001

dbSNP: rs1162592300
rs1162592300
ALB
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and 280T/M were examined for their association with cardiovascular abnormalities in a cohort of 161 patients with end-stage renal disease (ESRD) treated by hemodialysis. 12846758

2003

dbSNP: rs1162592300
rs1162592300
ALB
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and 280T/M were examined for their association with cardiovascular abnormalities in a cohort of 161 patients with end-stage renal disease (ESRD) treated by hemodialysis. 12846758

2003

dbSNP: rs1162592300
rs1162592300
ALB
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
0.010 GeneticVariation BEFREE The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and 280T/M were examined for their association with cardiovascular abnormalities in a cohort of 161 patients with end-stage renal disease (ESRD) treated by hemodialysis. 12846758

2003

dbSNP: rs1171303257
rs1171303257
ALB
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE The genotype spectrum discriminated on this strip includes the high-risk, or cancer-associated, HPV genotypes 16, 18, 26, 31, 33, 35, 39, 45, 51, 52, 55, 56, 58, 59, 68 (ME180), MM4 (W13B), MM7 (P291), and MM9 (P238A) and the low-risk, or non-cancer-associated, genotypes 6, 11, 40, 42, 53, 54, 57, 66, and MM8 (P155). 9738060

1998

dbSNP: rs1171303257
rs1171303257
ALB
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The genotype spectrum discriminated on this strip includes the high-risk, or cancer-associated, HPV genotypes 16, 18, 26, 31, 33, 35, 39, 45, 51, 52, 55, 56, 58, 59, 68 (ME180), MM4 (W13B), MM7 (P291), and MM9 (P238A) and the low-risk, or non-cancer-associated, genotypes 6, 11, 40, 42, 53, 54, 57, 66, and MM8 (P155). 9738060

1998

dbSNP: rs1241977606
rs1241977606
ALB
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.010 GeneticVariation BEFREE The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent. 16481888

2006

dbSNP: rs1241977606
rs1241977606
ALB
CUI: C3874381
Disease: Childhood nephrotic syndrome
Childhood nephrotic syndrome
0.010 GeneticVariation BEFREE We calculated crude odds ratios and 95% confidence intervals of childhood nephrotic syndrome and focal segmental glomerulosclerosis associated with R229Q heterozygosity using data from five studies. 16481888

2006

dbSNP: rs1332629192
rs1332629192
ALB
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.020 GeneticVariation BEFREE The V16A polymorphism in SOD2 is associated with increased risk of diabetic nephropathy and cardiovascular disease in type 1 diabetes. 19834686

2009

dbSNP: rs1332629192
rs1332629192
ALB
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.020 GeneticVariation BEFREE The present study aimed to determine whether a valine/alanine polymorphism in MnSOD (V16A, rs4880), alone or in combination with smoking, can contribute to development of diabetic nephropathy in 1,510 Finnish and Swedish patients with type 1 diabetes. 17192491

2007

dbSNP: rs1332629192
rs1332629192
ALB
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE SOD2 gene Val16Ala polymorphism is associated with macroalbuminuria in Mexican type 2 diabetes patients: a comparative study and meta-analysis. 24119114

2013

dbSNP: rs1332629192
rs1332629192
ALB
Diabetes Mellitus, Insulin-Dependent
0.020 GeneticVariation BEFREE The present study aimed to determine whether a valine/alanine polymorphism in MnSOD (V16A, rs4880), alone or in combination with smoking, can contribute to development of diabetic nephropathy in 1,510 Finnish and Swedish patients with type 1 diabetes. 17192491

2007

dbSNP: rs1332629192
rs1332629192
ALB
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE These results suggest that V16A polymorphism of Mn-SOD gene is not related to pathogenesis of diabetes but is associated with stages of albuminuria in Korean type 2 diabetes. 16324912

2006

dbSNP: rs1332629192
rs1332629192
ALB
Diabetes Mellitus, Insulin-Dependent
0.020 GeneticVariation BEFREE The MnSOD V16A polymorphism is involved in the development of nephropathy caused by type 1 diabetes and seems to predict cardiovascular disease during follow-up. 19834686

2009

dbSNP: rs1332629192
rs1332629192
ALB
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation BEFREE These results suggest that V16A polymorphism of Mn-SOD gene is not related to pathogenesis of diabetes but is associated with stages of albuminuria in Korean type 2 diabetes. 16324912

2006

dbSNP: rs1332629192
rs1332629192
ALB
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation BEFREE These results suggest that V16A polymorphism of Mn-SOD gene is not related to pathogenesis of diabetes but is associated with stages of albuminuria in Korean type 2 diabetes. 16324912

2006

dbSNP: rs1332629192
rs1332629192
ALB
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 GeneticVariation BEFREE The MnSOD V16A polymorphism is involved in the development of nephropathy caused by type 1 diabetes and seems to predict cardiovascular disease during follow-up. 19834686

2009

dbSNP: rs1332629192
rs1332629192
ALB
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation BEFREE The MnSOD V16A polymorphism is involved in the development of nephropathy caused by type 1 diabetes and seems to predict cardiovascular disease during follow-up. 19834686

2009

dbSNP: rs140421861
rs140421861
ALB
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.010 GeneticVariation BEFREE Our study suggests that the 936 C/T polymorphism of the VEGF gene may be an important factor determining plasma VEGF levels and that its polymorphism is related with diabetic retinopathy. 19796028

2009

dbSNP: rs370819889
rs370819889
ALB
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein marker, cystatin C), genetic polymorphisms and nutritional status in tHcy blood levels in end-stage renal disease patients (ESRD) under hemodialysis and supplemented with folate, we measured tHcy, folate, vitamin B12 (B12), creatinine, cystatin C, albumin and C-reactive protein and determined the polymorphism of methylenetetrahydrofolate reductase (MTHFR) (C677T and A1289C) and of methionine synthase (MS) (A2756G) in 114 ESRD patients before hemodialysis and 76 control subjects. 11592445

2001

dbSNP: rs370819889
rs370819889
ALB
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein marker, cystatin C), genetic polymorphisms and nutritional status in tHcy blood levels in end-stage renal disease patients (ESRD) under hemodialysis and supplemented with folate, we measured tHcy, folate, vitamin B12 (B12), creatinine, cystatin C, albumin and C-reactive protein and determined the polymorphism of methylenetetrahydrofolate reductase (MTHFR) (C677T and A1289C) and of methionine synthase (MS) (A2756G) in 114 ESRD patients before hemodialysis and 76 control subjects. 11592445

2001

dbSNP: rs374651285
rs374651285
ALB
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 GeneticVariation BEFREE Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge. 31230104

2019

dbSNP: rs534536101
rs534536101
ALB
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) c.415C>T in exon 3 of <i>NUDT15</i> affects thiopurine-induced leukopenia in Asian patients with Crohn's disease. 29398872

2018

dbSNP: rs534536101
rs534536101
ALB
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) c.415C>T in exon 3 of <i>NUDT15</i> affects thiopurine-induced leukopenia in Asian patients with Crohn's disease. 29398872

2018