Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853107
rs137853107
TMEM67
0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs267607114
rs267607114
TMEM67
0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs267607119
rs267607119
TMEM67
0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs772437766
rs772437766
TMEM67
0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs775883520
rs775883520
TMEM67
G 0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs781383498
rs781383498
TMEM67
0.700 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs137853107
rs137853107
TMEM67
0.800 GeneticVariation UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164

2011
dbSNP: rs267607114
rs267607114
TMEM67
0.800 GeneticVariation UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164

2011
dbSNP: rs267607119
rs267607119
TMEM67
C 0.800 GeneticVariation CLINVAR Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164

2011
dbSNP: rs267607119
rs267607119
TMEM67
0.800 GeneticVariation UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164

2011
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164

2011
dbSNP: rs772437766
rs772437766
TMEM67
0.800 GeneticVariation UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164

2011
dbSNP: rs781383498
rs781383498
TMEM67
0.700 GeneticVariation UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164

2011
dbSNP: rs267607115
rs267607115
TMEM67
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
dbSNP: rs775883520
rs775883520
TMEM67
G 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: rs137853107
rs137853107
TMEM67
G 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs267607119
rs267607119
TMEM67
C 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs267607119
rs267607119
TMEM67
C 0.800 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs762543032
rs762543032
TMEM67
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs772437766
rs772437766
TMEM67
G 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs116647652
rs116647652
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 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs202149403
rs202149403
TMEM67
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015