|
rs1042522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The synergistic effect of mutant genotypes of SNPs G2677T/A and C3435T in different combinations increase the risk of developing steroid resistance in patients with NS.
|
21460357 |
2011 |
|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The frequencies of MDR1 G2677T/A GT, GA, TT+AA genotypes or T allele, MDR1 C3435T TT genotype, and T allele genotype frequencies were significantly increased in NS group.
|
23994685 |
2013 |
|
rs10518133
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
|
31263063 |
2019 |
|
rs1063348
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.
|
29903748 |
2018 |
|
rs1128503
|
|
|
0.020 |
GeneticVariation |
BEFREE |
ABCB1 C1236T, ABCB1 G2677 T/A genotype and BMI are probably the factors influencing the clinical efficacy of TAC in treating patients with NS.
|
29615122 |
2018 |
|
rs1128503
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We undertook this study to examine the distribution of three most frequent MDR-1 exonic polymorphisms G3435C, G2677T/A and C1236T in patients with NS and control children to investigate their usefulness as markers of responsiveness of the disease to steroids.
|
21460357 |
2011 |
|
rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
|
11799392 |
2002 |
|
rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).
|
24589093 |
2014 |
|
rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
|
18805831 |
2009 |
|
rs121912491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Taken together, these results suggest that the R246Q mutation causes nephrotic syndrome by impairing secretion of laminin-521 from podocytes into the GBM; however, increased expression of the mutant protein is able to overcome this secretion defect and improve glomerular permselectivity.
|
21511833 |
2011 |
|
rs1267969615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
AGT-M235T genotype was associated with the presence of nephrotic syndrome (p < 0.05), correlated to the number of antihypertensive drugs agents taken (p < 0.01) and influenced the rate of deterioration of renal function (p < 0.05).
|
15031629 |
2004 |
|
rs139994842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
|
rs1437439236
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this report we have performed whole-exome sequencing and identified a new homozygous variant in <i>SGPL1</i>, p.Arg340Trp, in a girl with nephrotic syndrome and Addison's disease.
|
30090628 |
2018 |
|
rs1569504068
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs16946160
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Common variation in GPC5 is associated with acquired nephrotic syndrome.
|
21441931 |
2011 |
|
rs199840952
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs201899638
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
|
31263063 |
2019 |
|
rs2032582
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Patients with NS carrying homozygous mutants of single nucleotide polymorphism (SNP) G2677T/A are prone to develop SRNS.
|
21460357 |
2011 |
|
rs2032582
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The frequencies of MDR1 G2677T/A GT, GA, TT+AA genotypes or T allele, MDR1 C3435T TT genotype, and T allele genotype frequencies were significantly increased in NS group.
|
23994685 |
2013 |
|
rs2222722
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
|
rs2637678
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
|
31263063 |
2019 |
|
rs267606919
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
|
18503012 |
2008 |
|
rs267606919
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
rs267606919
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.
|
16518627 |
2006 |