Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124289
rs398124289
NPHP4
TGGAGC 0.700 CausalMutation CLINVAR

dbSNP: rs745340459
rs745340459
IQCB1
TCAAG 0.700 CausalMutation CLINVAR

dbSNP: rs747165335
rs747165335
WDR19
T 0.700 CausalMutation CLINVAR

dbSNP: rs747323414
rs747323414
CEP290
T 0.700 GeneticVariation CLINVAR

dbSNP: rs747861275
rs747861275
NPHP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs757641323
rs757641323
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs758238787
rs758238787
NPHP3 ; NPHP3-ACAD11
T 0.700 CausalMutation CLINVAR

dbSNP: rs758498695
rs758498695
NPHP3 ; NPHP3-ACAD11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs760540562
rs760540562
CEP290
T 0.700 CausalMutation CLINVAR

dbSNP: rs766670248
rs766670248
CEP290
T 0.700 GeneticVariation CLINVAR

dbSNP: rs771148519
rs771148519
WDR19
G 0.700 CausalMutation CLINVAR

dbSNP: rs771215577
rs771215577
NPHP3 ; NPHP3-ACAD11
AT 0.700 CausalMutation CLINVAR

dbSNP: rs772170760
rs772170760
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs773521620
rs773521620
NPHP3 ; NPHP3-AS1 ; NPHP3-ACAD11
C 0.700 CausalMutation CLINVAR

dbSNP: rs780624853
rs780624853
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs863225183
rs863225183
CEP290
C 0.700 CausalMutation CLINVAR

dbSNP: rs878855334
rs878855334
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs878855335
rs878855335
PAM16 ; GLIS2
T 0.700 CausalMutation CLINVAR

dbSNP: rs886043303
rs886043303
CEP290
G 0.700 CausalMutation CLINVAR

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: rs369925690
rs369925690
PKHD1
C 0.700 CausalMutation CLINVAR PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. 11898128

2002
dbSNP: rs745770404
rs745770404
PKHD1
T 0.700 CausalMutation CLINVAR PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. 11898128

2002
dbSNP: rs119456959
rs119456959
NPHP3 ; NPHP3-ACAD11
T 0.700 CausalMutation CLINVAR Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122

2003