rs749435317, TMEM67

N. diseases: 3
Disease: COACH syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
0.700 GeneticVariation CLINVAR The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006