rs863225233, TMEM67

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
0.700 GeneticVariation UNIPROT