Gene: TMEM67 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064792983
rs1064792983
TMEM67
GG 0.700 CausalMutation CLINVAR

dbSNP: rs1554556213
rs1554556213
TMEM67
ATAA 0.700 GeneticVariation CLINVAR

dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 GeneticVariation CLINVAR

dbSNP: rs752362727
rs752362727
TMEM67
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886039810
rs886039810
TMEM67
C 0.700 GeneticVariation CLINVAR

dbSNP: rs775883520
rs775883520
TMEM67
G 0.710 CausalMutation CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906

2017
dbSNP: rs863225235
rs863225235
TMEM67
A 0.700 CausalMutation CLINVAR Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. 12368986

2002
dbSNP: rs386834180
rs386834180
TMEM67
C 0.700 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
dbSNP: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
dbSNP: rs267607119
rs267607119
TMEM67
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
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: rs201893408
rs201893408
TMEM67
C 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: rs386834202
rs386834202
TMEM67
C 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: rs775883520
rs775883520
TMEM67
G 0.710 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: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225235
rs863225235
TMEM67
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225235
rs863225235
TMEM67
A 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 CausalMutation CLINVAR MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 19540516

2009
dbSNP: rs267607119
rs267607119
TMEM67
C 0.700 CausalMutation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
dbSNP: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
dbSNP: rs863225235
rs863225235
TMEM67
A 0.700 CausalMutation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820

2007