Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754279998
rs754279998
MKS1
T 0.700 GeneticVariation CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071

2016
dbSNP: rs754279998
rs754279998
MKS1
T 0.700 GeneticVariation CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104

2016
dbSNP: rs754279998
rs754279998
MKS1
T 0.700 GeneticVariation CLINVAR Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560

2014