Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203478
rs118203478
TSC1
CA 0.700 CausalMutation CLINVAR

dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852834
rs137852834
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553948516
rs1553948516
SCARB2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1555487316
rs1555487316
UMOD
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567202189
rs1567202189
PKD1
CGTG 0.700 GeneticVariation CLINVAR

dbSNP: rs1569492161
rs1569492161
COL4A5
C 0.700 CausalMutation CLINVAR

dbSNP: rs530391015
rs530391015
INF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs771454167
rs771454167
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs886039813
rs886039813
OFD1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1800471
rs1800471
TGFB1
0.020 GeneticVariation BEFREE To determine whether genetic factors are involved in the development of renal dysfunction due to cyclosporine nephrotoxicity, we analyzed 2 polymorphisms in the signal sequence of the transforming growth factor (TGF)-beta 1 gene; codon 10 (Leu(10) --> Pro) and codon 25 (Arg(25) --> Pro). 11008076

2000
dbSNP: rs1800470
rs1800470
TGFB1
0.010 GeneticVariation BEFREE To determine whether genetic factors are involved in the development of renal dysfunction due to cyclosporine nephrotoxicity, we analyzed 2 polymorphisms in the signal sequence of the transforming growth factor (TGF)-beta 1 gene; codon 10 (Leu(10) --> Pro) and codon 25 (Arg(25) --> Pro). 11008076

2000
dbSNP: rs1217691063
rs1217691063
MTHFR
0.040 GeneticVariation BEFREE We investigated plasma folate and vitamin B12, methylenetetrahydrofolate reductase (MTHFR) C677T and cystathionine beta-synthase (CBS) 844ins68 polymorphisms, and homocysteine levels before and after methionine (100 mg/kg) loading in 58 patients with angiographically documented renal artery stenosis and mildly impaired renal function. 11918280

2001
dbSNP: rs777919630
rs777919630
CBS
0.010 GeneticVariation BEFREE We investigated plasma folate and vitamin B12, methylenetetrahydrofolate reductase (MTHFR) C677T and cystathionine beta-synthase (CBS) 844ins68 polymorphisms, and homocysteine levels before and after methionine (100 mg/kg) loading in 58 patients with angiographically documented renal artery stenosis and mildly impaired renal function. 11918280

2001
dbSNP: rs699
rs699
AGT
0.020 GeneticVariation BEFREE We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (ACE) insertion/deletion (I/D), angiotensin II type 1 receptor (AT1R) A1166C, aldosterone syntase (CYP11B2) -344C/T and intron 2 W/C polymorphisms in conjunction with clinical and biochemical covariables on the rate of progression of renal insufficiency in a group of patients with ESRD of various etiologies. 12832734

2003
dbSNP: rs1267969615
rs1267969615
ACE
0.010 GeneticVariation BEFREE We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (ACE) insertion/deletion (I/D), angiotensin II type 1 receptor (AT1R) A1166C, aldosterone syntase (CYP11B2) -344C/T and intron 2 W/C polymorphisms in conjunction with clinical and biochemical covariables on the rate of progression of renal insufficiency in a group of patients with ESRD of various etiologies. 12832734

2003
dbSNP: rs867394500
rs867394500
ACE
0.010 GeneticVariation BEFREE We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (ACE) insertion/deletion (I/D), angiotensin II type 1 receptor (AT1R) A1166C, aldosterone syntase (CYP11B2) -344C/T and intron 2 W/C polymorphisms in conjunction with clinical and biochemical covariables on the rate of progression of renal insufficiency in a group of patients with ESRD of various etiologies. 12832734

2003
dbSNP: rs28933979
rs28933979
TTR
0.020 GeneticVariation BEFREE Renal manifestations of ATTR V30M, like other amyloidoses, are different levels of proteinuria and renal insufficiency. 12832749

2003
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.010 GeneticVariation BEFREE We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. 16630947

2006
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
0.010 GeneticVariation BEFREE The Leu72Met polymorphism was also associated with serum total cholesterol levels in diabetic nephropathy patients with renal</span> dysfunction; the 72Met carriers had lower total cholesterol levels than the 72Met non-carriers (P < 0.05). 16793966

2006
dbSNP: rs12026
rs12026
PON2
0.010 GeneticVariation BEFREE We examined the relationship between variation at the C311S and A148G polymorphisms (together with PON2 intronic variant rs12704795) and indices of renal dysfunction (progression to micro- and macroalbuminuria, plasma creatinine increases) in 3,374 newly diagnosed type 2 diabetic subjects from the UK Prospective Diabetes Study followed prospectively (median 14.0 years), using proportional hazards models, adjusted for sex, ethnicity and other known or putative risk factors. 17096118

2006
dbSNP: rs12704795
rs12704795
PON2
0.010 GeneticVariation BEFREE We examined the relationship between variation at the C311S and A148G polymorphisms (together with PON2 intronic variant rs12704795) and indices of renal dysfunction (progression to micro- and macroalbuminuria, plasma creatinine increases) in 3,374 newly diagnosed type 2 diabetic subjects from the UK Prospective Diabetes Study followed prospectively (median 14.0 years), using proportional hazards models, adjusted for sex, ethnicity and other known or putative risk factors. 17096118

2006
dbSNP: rs7493
rs7493
PON2
0.010 GeneticVariation BEFREE We examined the relationship between variation at the C311S and A148G polymorphisms (together with PON2 intronic variant rs12704795) and indices of renal dysfunction (progression to micro- and macroalbuminuria, plasma creatinine increases) in 3,374 newly diagnosed type 2 diabetic subjects from the UK Prospective Diabetes Study followed prospectively (median 14.0 years), using proportional hazards models, adjusted for sex, ethnicity and other known or putative risk factors. 17096118

2006
dbSNP: rs188942711
rs188942711
COL4A3 ; MFF-DT
0.010 GeneticVariation BEFREE The early demonstration of R229Q in individuals with TBMN may indicate those at increased risk of proteinuria and renal impairment. 18726620

2008
dbSNP: rs61747728
rs61747728
NPHS2
0.010 GeneticVariation BEFREE The early demonstration of R229Q in individuals with TBMN may indicate those at increased risk of proteinuria and renal impairment. 18726620

2008