Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518923
rs1057518923
PKD1
GC 0.700 CausalMutation CLINVAR

dbSNP: rs112417755
rs112417755
GATA3
C 0.700 CausalMutation CLINVAR

dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
A 0.700 CausalMutation CLINVAR

dbSNP: rs373909351
rs373909351
IQCB1
A 0.700 CausalMutation CLINVAR

dbSNP: rs398123538
rs398123538
IQCB1
C 0.700 CausalMutation CLINVAR

dbSNP: rs777476179
rs777476179
ALMS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs699
rs699
AGT
0.090 GeneticVariation BEFREE There was no interaction between age of onset of ESRF and either the angiotensinogen M235T allele or angiotensin 1 receptor A1166C polymorphism. 9291178

1997
dbSNP: rs1267969615
rs1267969615
ACE
0.060 GeneticVariation BEFREE There was no interaction between age of onset of ESRF and either the angiotensinogen M235T allele or angiotensin 1 receptor A1166C polymorphism. 9291178

1997
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE The genotype of the MTHFR gene in 106 patients with ESRD was homozygous C677T mutation (VV) in 17 patients (16.1%) and heterozygous (AV) in 63 patients (58.4%); 26 patients (24.5%) did not carry this mutation (AA). 10430972

1999
dbSNP: rs1799983
rs1799983
NOS3
0.100 GeneticVariation BEFREE In addition, a mutation, Glu298Asp, in exon 7 of NOS3 and a 27 bp variable number tandem repeat (VNTR) marker in intron 4 of NOS3 were evaluated in the sibling pairs and in an additional 92 unrelated African-Americans with type 2 diabetes mellitus-associated ESRD (singletons). 11071967

2000
dbSNP: rs699
rs699
AGT
0.090 GeneticVariation BEFREE Angiotensin I-converting enzyme gene insertion/deletion and angiotensinogen M235T polymorphisms: risk of chronic renal failure. End-Stage Renal Disease Study Group. 10916074

2000
dbSNP: rs1267969615
rs1267969615
ACE
0.060 GeneticVariation BEFREE Angiotensin I-converting enzyme gene insertion/deletion and angiotensinogen M235T polymorphisms: risk of chronic renal failure. End-Stage Renal Disease Study Group. 10916074

2000
dbSNP: rs145640112
rs145640112
KLKB1
0.010 GeneticVariation BEFREE In addition, an A716C polymorphism in exon 7 resulting in the amino acid change H189P in the A3 domain of the heavy chain was observed in 5 patients belonging to 3 ESRD families. 11031105

2000
dbSNP: rs4253373
rs4253373
KLKB1
0.010 GeneticVariation BEFREE Individually or combined, the allelic variants observed are not statistically associated with ESRD, though in several cases (e.g., H183Q) the small number of people in the population carrying these alleles limits our ability to statistically test for significant association with ESRD. 11031105

2000
dbSNP: rs752390951
rs752390951
KLK4
0.010 GeneticVariation BEFREE In addition, an A716C polymorphism in exon 7 resulting in the amino acid change H189P in the A3 domain of the heavy chain was observed in 5 patients belonging to 3 ESRD families. 11031105

2000
dbSNP: rs760452842
rs760452842
KLK4
0.010 GeneticVariation BEFREE In addition, an A716C polymorphism in exon 7 resulting in the amino acid change H189P in the A3 domain of the heavy chain was observed in 5 patients belonging to 3 ESRD families. 11031105

2000
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE The C677T genotype of MTHFR is associated with CVD in ESRD and may be a more meaningful marker than tHcy for abnormal homocysteine metabolism in ESRD. 11532106

2001
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE The C677T mutation of the MTHFR gene may be an independent risk factor that predicts the development of carotid atherosclerosis in ESRD patients. 11287760

2001
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 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: rs699
rs699
AGT
0.090 GeneticVariation BEFREE There was no association between age at onset of ESRD and either M235T or A1166C polymorphism. 11136175

2001
dbSNP: rs1267969615
rs1267969615
ACE
0.060 GeneticVariation BEFREE There was no association between age at onset of ESRD and either M235T or A1166C polymorphism. 11136175

2001
dbSNP: rs1805087
rs1805087
MTR
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
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: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE Our results did not show any association between the MTHFR reductase C677T polymorphism and the increased risk of the development of end-stage renal disease. 12187113

2002
dbSNP: rs1799983
rs1799983
NOS3
0.100 GeneticVariation BEFREE These data indicated that Glu298Asp is the predisposing factor in ESRD, especially DM-derived ESRD. 12364359

2002