Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820

2007
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051

2007