Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201845154
rs201845154
MKS1
0.700 GeneticVariation UNIPROT MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104

2016
dbSNP: rs201845154
rs201845154
MKS1
0.700 GeneticVariation UNIPROT Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009
dbSNP: rs201845154
rs201845154
MKS1
0.700 GeneticVariation UNIPROT MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886

2006