NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Nephronophthisis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765263671
rs765263671
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C0687120
Disease:
Nephronophthisis 		A 0.700 CausalMutation CLINVAR Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 18076122 2008