Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434351
rs121434351
AHI1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1276908141
rs1276908141
AHI1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208431
rs1554208431
AHI1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554214237
rs1554214237
AHI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554350503
rs1554350503
AHI1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs371637724
rs371637724
AHI1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs777668842
rs777668842
AHI1
A 0.700 CausalMutation CLINVAR AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 16155189

2006
dbSNP: rs777668842
rs777668842
AHI1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs777668842
rs777668842
AHI1
A 0.700 CausalMutation CLINVAR AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006
dbSNP: rs797045223
rs797045223
AHI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs905262279
rs905262279
AHI1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121434350
rs121434350
AHI1
0.010 GeneticVariation BEFREE We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). 23532844

2013
dbSNP: rs397514726
rs397514726
AHI1
0.010 GeneticVariation BEFREE We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). 23532844

2013
dbSNP: rs780163791
rs780163791
AHI1
0.010 GeneticVariation BEFREE By whole-exome sequencing (WES) in a consanguineous family with congenital non-syndromic deafness, we unexpectedly identified a homozygous nonsense variant, p.Arg1066*, in AHI1, a gene associated with Joubert syndrome (JBTS), a severe recessive ciliopathy. 25616960

2015
dbSNP: rs863225135
rs863225135
AHI1
0.010 GeneticVariation BEFREE In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin. 29334628

2018
dbSNP: rs764109067
rs764109067
ARL13B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1378981995
rs1378981995
ARL13B
0.010 GeneticVariation BEFREE In contrast, ARL13B-c.[223G>A] (p.(Gly75Arg) displayed a marked loss of ARL3 guanine nucleotide-exchange factor activity, with retention of its GTPase activities, highlighting the correlation between its loss of function as an ARL3 guanine nucleotide-exchange factor and Joubert syndrome. 29255182

2017
dbSNP: rs143149764
rs143149764
B9D1
G 0.700 CausalMutation CLINVAR B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 21493627

2011
dbSNP: rs369488112
rs369488112
B9D1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs373478202
rs373478202
B9D1
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs771170000
rs771170000
B9D1
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs886039811
rs886039811
B9D1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs757863670
rs757863670
B9D2
G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs786204189
rs786204189
B9D2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs150291837
rs150291837
C2CD3
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015