rs749435317, TMEM67

N. diseases: 3
Disease: JOUBERT SYNDROME 6 ×
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 GeneticVariation CLINVAR The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006