Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201108965
rs201108965
TMEM216
T 0.800 CausalMutation CLINVAR Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472

2012
dbSNP: rs201108965
rs201108965
TMEM216
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Meckel syndrome. 21368913

2011
dbSNP: rs201108965
rs201108965
TMEM216
T 0.800 CausalMutation CLINVAR Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350

2010
dbSNP: rs201108965
rs201108965
TMEM216
0.800 GeneticVariation UNIPROT Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010
dbSNP: rs201108965
rs201108965
TMEM216
T 0.800 CausalMutation CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010
dbSNP: rs201108965
rs201108965
TMEM216
T 0.800 GeneticVariation CLINVAR