Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833831
rs386833831
TMEM216
0.700 GeneticVariation UNIPROT Clinical utility gene card for: Meckel syndrome. 21368913

2011
dbSNP: rs386833831
rs386833831
TMEM216
0.700 GeneticVariation UNIPROT Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010