Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79228041
rs79228041
ALB
CUI: C4015752
Disease: ALBUMIN B PHENOTYPE
ALBUMIN B PHENOTYPE 		A 0.700 CausalMutation CLINVAR

dbSNP: rs75353611
rs75353611
ALB
CUI: C3889611
Disease: ALBUMIN BLENHEIM PHENOTYPE
ALBUMIN BLENHEIM PHENOTYPE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs770678026
rs770678026
ALB
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE By combining immuno-spin trapping and molecular magnetic resonance imaging, in vivo trapped radical adducts were detected in the spinal cords of SOD1(G93A)-transgenic (Tg) mice, a model for ALS. 23722162

2013
dbSNP: rs770678026
rs770678026
ALB
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE A transgenic mouse model of amyotrophic lateral sclerosis was selected based on a phenotype resembling clinical symptoms, including loss of motor neurons from the spinal cord and paralysis in one or more limbs, due to expression of a G93A mutant form of human superoxide dismutase (SOD1). 23383983

2013
dbSNP: rs77449454
rs77449454
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs77335374
rs77335374
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs77238412
rs77238412
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		T 0.700 CausalMutation CLINVAR Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. 15300429

2004
dbSNP: rs77238412
rs77238412
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		T 0.700 CausalMutation CLINVAR Analbuminemia: three cases resulting from different point mutations in the albumin gene. 7937781

1994
dbSNP: rs77238412
rs77238412
ALB
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		T 0.700 CausalMutation CLINVAR Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. 15996651

2005
dbSNP: rs77408163
rs77408163
ALB
CUI: C4015776
Disease: ANALBUMINEMIA BAGHDAD
ANALBUMINEMIA BAGHDAD 		A 0.700 CausalMutation CLINVAR

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: 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: 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: 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: 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: 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
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: 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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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: rs58624704
rs58624704
ALB
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE This study demonstrated that PON1 polymorphisms L55M and Q192R seem to be genetic markers involved in the development of DN in T1D.(Endokrynol Pol 2017; 68 (1): 35-41). 26884296

2017
dbSNP: rs1332629192
rs1332629192
ALB
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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
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