rs281874657
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The index case had the p.Q379X variant in COL4A5 and currently had renal impairment, (eGFR = 45 ml/min/1.73 m<sup>2</sup>), bilateral hearing loss, and central and peripheral retinopathies.
|
27485810 |
2017 |
rs28933979
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Renal manifestations of ATTR V30M, like other amyloidoses, are different levels of proteinuria and renal insufficiency.
|
12832749 |
2003 |
rs28933979
|
|
|
0.020 |
GeneticVariation |
BEFREE |
ATTR-V30M patients with FNEs had longer disease duration (OR=1.24; 95% CI 1.07 to 1.43), renal dysfunction (OR=4.65; 95% CI 1.20 to 18.05) and were men (OR=3.57; 95% CI 1.02 to 12.30).
|
25091367 |
2015 |
rs34557412
|
|
|
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 |
rs367825197
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we report the identification of a heterozygous nonsense <i>PODXL</i> mutation (c.C976T; p. Arg326X) in a Chinese pedigree featured by proteinuria and renal insufficiency with AD inheritance by whole exome sequencing (WES).
|
30523047 |
2019 |
rs368087026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The T allele at MTHFR C677T was the risk factor for prolonged high MTX concentration (p = 0.009, OR 5.54, 95 % CI 1.54-19.85), but not for renal dysfunction.
|
24241962 |
2013 |
rs4149056
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with OATP1B1 521T>C mutant-type carrier had slightly higher trough SDC (0.98 ± 0.53 ng/mL) than those with wild-type carrier (0.74 ± 0.40 ng/mL) when they have repaired renal function.Heart failure patients with severe renal dysfunction (GFR<60 mL/min) and/or OATP1B1 521T>C mutant-type carriers are recommended a smaller dosage of digoxin and strict therapeutic drug monitoring.
|
30946364 |
2019 |
rs530391015
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs538166970
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, another mutant, R1180P, was compatible with life after transient neonatal renal insufficiency.
|
24163131 |
2014 |
rs61747728
|
|
|
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 |
rs696217
|
|
|
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 |
rs699
|
|
|
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 |
rs699
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We analyzed single nucleotide polymorphisms (SNPs) associated with cardiovascular pathophysiology (including AGT1R T573C, AGT1R A1166C, and AGT M235T) and presence of renal dysfunction (eGFR<60 ml/min/1.73 m2) or history of CHD.
|
19327134 |
2009 |
rs7222094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients having the CC genotype of rs7222094 in SPH experienced more renal and hematological dysfunction (p = 0.003 and p = 0.011), while patients of the VASST cohort with the rs7222094 CC genotype showed the same trend toward more renal dysfunction.
|
21257964 |
2011 |
rs738409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patatin-like phospholipase 3 (PNPLA3) polymorphism rs738409 (c.444C>G) is associated with the risk of NAFLD and/or renal dysfunction; however, the influence of the weight status on the associations remains unknown.
|
26200108 |
2015 |
rs74315289
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
|
21269598 |
2011 |
rs7456421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No statistical significance of allele transfer was found, which means that there were no associations between rs7456421 and rs 2030712 SNPs of HIPK2 gene and the incidence of renal dysfunction.
|
23540226 |
2013 |
rs7493
|
|
|
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 |
rs7582694
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case-only meta-analysis of the two cohorts, the STAT4 SNP rs7582694 was associated with severe renal insufficiency with p = 1.6 × 10(-3) and OR 2.22.
|
24386384 |
2013 |
rs771454167
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs777919630
|
|
|
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 |
rs867394500
|
|
|
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 |
rs886039813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|