Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834180
rs386834180
0.800 GeneticVariation UNIPROT Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449

2010

dbSNP: rs386834180
rs386834180
0.800 GeneticVariation UNIPROT Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009

dbSNP: rs386834180
rs386834180
0.800 GeneticVariation UNIPROT Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820

2007

dbSNP: rs386834180
rs386834180
0.800 GeneticVariation UNIPROT The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389

2007

dbSNP: rs386834180
rs386834180
0.800 GeneticVariation UNIPROT The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887

2006

dbSNP: rs386834180
rs386834180
C 0.800 GeneticVariation CLINVAR