Gene: NPHP4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852919
rs137852919
NPHP4
A 0.700 CausalMutation CLINVAR Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 15776426

2005
dbSNP: rs137852919
rs137852919
NPHP4
A 0.700 CausalMutation CLINVAR The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 12244321

2002
dbSNP: rs137852922
rs137852922
NPHP4
A 0.700 CausalMutation CLINVAR A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563

2002
dbSNP: rs137852923
rs137852923
NPHP4
A 0.700 CausalMutation CLINVAR A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563

2002
dbSNP: rs1210874691
rs1210874691
NPHP4
A 0.700 CausalMutation CLINVAR

dbSNP: rs398124289
rs398124289
NPHP4
TGGAGC 0.700 CausalMutation CLINVAR