rs386833895, NPHS1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.800 GeneticVariation CLINVAR Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. 9915943 1999
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.800 GeneticVariation UNIPROT Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.800 GeneticVariation UNIPROT Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. 22009864 2011