Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834048
rs386834048
MKS1
T 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs386834048
rs386834048
MKS1
T 0.700 GeneticVariation CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276

2007
dbSNP: rs386834048
rs386834048
MKS1
T 0.700 GeneticVariation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051

2007
dbSNP: rs386834048
rs386834048
MKS1
T 0.700 GeneticVariation CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820

2007
dbSNP: rs386834048
rs386834048
MKS1
T 0.700 CausalMutation CLINVAR