rs766524637, NPHP1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 CausalMutation CLINVAR Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. 16762963 2006
Nephronophthisis 1
CUI: C4551979
Disease: Nephronophthisis 1
0.700 CausalMutation CLINVAR