Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607114
rs267607114
TMEM67
A 0.800 CausalMutation CLINVAR

dbSNP: rs1554555063
rs1554555063
TMEM67
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554557920
rs1554557920
TMEM67
G 0.700 CausalMutation CLINVAR

dbSNP: rs199821258
rs199821258
TMEM67
G 0.700 CausalMutation CLINVAR

dbSNP: rs267607116
rs267607116
TMEM67
C 0.700 CausalMutation CLINVAR

dbSNP: rs267607118
rs267607118
TMEM67
T 0.700 CausalMutation CLINVAR

dbSNP: rs386834180
rs386834180
TMEM67
C 0.700 GeneticVariation CLINVAR

dbSNP: rs771551765
rs771551765
TMEM67
A 0.700 GeneticVariation CLINVAR Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. 10567047

1999
dbSNP: rs749435317
rs749435317
TMEM67
G 0.700 GeneticVariation CLINVAR The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887

2006
dbSNP: rs137853107
rs137853107
TMEM67
0.800 GeneticVariation UNIPROT The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906

2007
dbSNP: rs267607114
rs267607114
TMEM67
0.800 GeneticVariation UNIPROT The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906

2007
dbSNP: rs267607119
rs267607119
TMEM67
0.800 GeneticVariation UNIPROT The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906

2007
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906

2007
dbSNP: rs772437766
rs772437766
TMEM67
0.800 GeneticVariation UNIPROT The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906

2007
dbSNP: rs781383498
rs781383498
TMEM67
0.700 GeneticVariation UNIPROT The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906

2007
dbSNP: rs267607119
rs267607119
TMEM67
C 0.800 GeneticVariation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
dbSNP: rs267607115
rs267607115
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: rs137853107
rs137853107
TMEM67
0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs267607114
rs267607114
TMEM67
0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs267607119
rs267607119
TMEM67
C 0.800 GeneticVariation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs267607119
rs267607119
TMEM67
0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs772437766
rs772437766
TMEM67
0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs267607116
rs267607116
TMEM67
A 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs781383498
rs781383498
TMEM67
0.700 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009