MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Familial aplasia of the vermis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167302
rs1114167302
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014 2016