Gene: NPHP1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765263671
rs765263671
NPHP1
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
dbSNP: rs766524637
rs766524637
NPHP1
GT 0.700 CausalMutation CLINVAR Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. 16762963

2006
dbSNP: rs121907898
rs121907898
NPHP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121907899
rs121907899
NPHP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs747861275
rs747861275
NPHP1
A 0.700 CausalMutation CLINVAR