Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200799769
rs200799769
TMEM231
T 0.800 CausalMutation CLINVAR TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 27449316

2016
dbSNP: rs200799769
rs200799769
TMEM231
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs200799769
rs200799769
TMEM231
T 0.800 CausalMutation CLINVAR Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012
dbSNP: rs200799769
rs200799769
TMEM231
0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012