Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11230683
rs11230683
TMEM216
T 0.700 GeneticVariation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012
dbSNP: rs11230683
rs11230683
TMEM216
T 0.700 GeneticVariation CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010
dbSNP: rs11230683
rs11230683
TMEM216
T 0.700 CausalMutation CLINVAR