Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115489112
rs115489112
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE Two additional variants (H800R and Y1174H) were nominally associated with protection from end stage renal disease (P=0.036; odds ratio, 0.44; P=0.0084; odds ratio, 0.040, respectively) in the locus-wide single-variant association tests. 24948143 2014
dbSNP: rs146400394
rs146400394
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE Two additional variants (H800R and Y1174H) were nominally associated with protection from end stage renal disease (P=0.036; odds ratio, 0.44; P=0.0084; odds ratio, 0.040, respectively) in the locus-wide single-variant association tests. 24948143 2014
dbSNP: rs35238405
rs35238405
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE In a combined analysis (all patients with end</span> stage renal disease versus all controls), T233A was associated with all-cause end stage renal disease (P=0.0038; odds ratio, 2.82; n=3270 patients and n=1187 controls). 24948143 2014
dbSNP: rs447707
rs447707
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0022661
Disease:
Kidney Failure, Chronic
G 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018