Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs962888148
Entrez Id: 4868
Gene Symbol: NPHS1
CUI: C3501848
Nephrosis, congenital
0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551 2018