Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75002628
rs75002628
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		C 0.820 GeneticVariation CLINVAR

dbSNP: rs77892378
rs77892378
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		C 0.800 GeneticVariation CLINVAR

dbSNP: rs79228041
rs79228041
ALB
CUI: C4015752
Disease: ALBUMIN B PHENOTYPE
ALBUMIN B PHENOTYPE 		A 0.700 CausalMutation CLINVAR

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

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

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

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

dbSNP: rs74821926
rs74821926
ALB
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs75002628
rs75002628
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.820 GeneticVariation UNIPROT Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. 7852505

1995
dbSNP: rs77892378
rs77892378
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation UNIPROT Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. 7852505

1995
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: rs75002628
rs75002628
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.820 GeneticVariation UNIPROT An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. 8048949

1994
dbSNP: rs77892378
rs77892378
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation UNIPROT An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. 8048949

1994
dbSNP: rs75002628
rs75002628
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.820 GeneticVariation UNIPROT A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. 9329347

1997
dbSNP: rs77892378
rs77892378
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation UNIPROT A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. 9329347

1997
dbSNP: rs75002628
rs75002628
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.820 GeneticVariation UNIPROT Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. 9589637

1998
dbSNP: rs77892378
rs77892378
ALB
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation UNIPROT Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. 9589637

1998
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: 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: 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: 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