Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763972372
rs763972372
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C3501848
Disease:
Nephrosis, congenital
0.010 GeneticVariation BEFREE The novel splice site mutation of IVS11+1G>A and a missense mutation at c.928G>A in NPHS1 were found to cause CNS in this Chinese child. 25729976 2015