Gene: AHI1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006
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: rs797045223
rs797045223
AHI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs905262279
rs905262279
AHI1
T 0.700 CausalMutation CLINVAR