|
rs1057518923
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs112417755
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs138924661
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs373909351
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs398123538
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs777476179
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs13333226
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A common variation rs13333226 in the promoter region of UMOD gene was independently associated with ESRD in Han Chinese.
|
27938332 |
2016 |
|
rs61747728
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A family with three members homozygous for the NPHS2 p.R229Q variant is presented: a 37-year-old patient who was diagnosed with proteinuria at age 7 months, focal segmental glomerulosclerosis (FSGS) at age 20 years, and end-stage renal disease (ESRD) at age 33 years, his 59 year-old father and his 40 year-old brother, both unaffected with no proteinuria.
|
23800802 |
2013 |
|
rs753350907
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A family with three members homozygous for the NPHS2 p.R229Q variant is presented: a 37-year-old patient who was diagnosed with proteinuria at age 7 months, focal segmental glomerulosclerosis (FSGS) at age 20 years, and end-stage renal disease (ESRD) at age 33 years, his 59 year-old father and his 40 year-old brother, both unaffected with no proteinuria.
|
23800802 |
2013 |
|
rs9379084
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A meta-analysis combining African American and European American T2D-ESKD data revealed P = 3.52 × 10(-7) and 3.70 × 10(-5) for rs9379084 and rs41302867 association, respectfully.
|
25027322 |
2014 |
|
rs41302867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A meta-analysis combining African American and European American T2D-ESKD data revealed P = 3.52 × 10(-7) and 3.70 × 10(-5) for rs9379084 and rs41302867 association, respectfully.
|
25027322 |
2014 |
|
rs373971520
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A second variant at GNG7 (rs373971520; P = 2.17 × 10<sup>-8</sup>, OR = 1.46) remained associated with all-cause ESKD in the APOL1-negative analysis.
|
31092297 |
2019 |
|
rs6936632
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A third SNP, rs6936632, was suggestively associated with ESRD in the Finnish patients and in the meta-analysis of four cohorts.
|
23681557 |
2013 |
|
rs7583877
|
|
|
0.020 |
GeneticVariation |
BEFREE |
After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 × 10(-8)) and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 × 10(-9)).
|
23028342 |
2012 |
|
rs12437854
|
|
|
0.030 |
GeneticVariation |
BEFREE |
After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 × 10(-8)) and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 × 10(-9)).
|
23028342 |
2012 |
|
rs4819554
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Allele rs4819554 A had been associated to the risk of developing end stage renal disease, and was also linked to an increased expression of the IL17RA protein and higher levels of Th17 cell subsets.
|
25636567 |
2015 |
|
rs12197043
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Also, two intergenic SNPs showed consistent genotypic association with T2DM-ESRD: rs12197043 and rs4897081.
|
18560894 |
2008 |
|
rs4897081
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Also, two intergenic SNPs showed consistent genotypic association with T2DM-ESRD: rs12197043 and rs4897081.
|
18560894 |
2008 |
|
rs2070600
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Among the three described polymorphisms, only the RAGE Gly82Ser genotype frequency was significantly increased in the group with advanced nephropathy (11%) defined by a chronic renal failure compared to the three others groups: no nephropathy, 5%; incipient (microalbuminuria) 5%; established (macroalbuminuria), 2%) (P=0.04).
|
15803111 |
2005 |
|
rs1416580204
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the three described polymorphisms, only the RAGE Gly82Ser genotype frequency was significantly increased in the group with advanced nephropathy (11%) defined by a chronic renal failure compared to the three others groups: no nephropathy, 5%; incipient (microalbuminuria) 5%; established (macroalbuminuria), 2%) (P=0.04).
|
15803111 |
2005 |
|
rs12437854
|
|
|
0.030 |
GeneticVariation |
BEFREE |
An association between ESRD and rs17709344, tagging the previously identified rs12437854 and located between the RGMA and MCTP2 genes, was replicated in independent case-control cohorts. rs12917114 near SEMA6D was associated with ESRD in the replication cohorts under the genotypic model (p < 0.05), and rs12137135 upstream of WNT4 was associated with ESRD in Steno.
|
24871321 |
2014 |
|
rs28935197
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An atypical p.N215S variant of Fabry disease with end-stage renal failure.
|
30023289 |
2018 |
|
rs2391335
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of 710 ESRD patient samples and 361 controls provided no evidence of single SNP associations in either diabetic or non-diabetic ESRD; although nominal evidence of association with all-cause ESRD was observed with a two SNP (p = 0.022) and three SNP (p = 0.023) haplotype, both containing SNPs rs7490924 and rs2391335 in intron 1.
|
18580054 |
2008 |
|
rs7490924
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of 710 ESRD patient samples and 361 controls provided no evidence of single SNP associations in either diabetic or non-diabetic ESRD; although nominal evidence of association with all-cause ESRD was observed with a two SNP (p = 0.022) and three SNP (p = 0.023) haplotype, both containing SNPs rs7490924 and rs2391335 in intron 1.
|
18580054 |
2008 |
|
rs699
|
|
|
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 |