Gene: RUNX2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997
dbSNP: rs752933596
rs752933596
RUNX2
0.700 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997
dbSNP: rs752933596
rs752933596
RUNX2
0.700 GeneticVariation UNIPROT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999
dbSNP: rs104893990
rs104893990
RUNX2
0.810 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999
dbSNP: rs104893990
rs104893990
RUNX2
0.810 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT We further identified three putative hypomorphic mutations (R391X, T200A and 90insC) which result in a clinical spectrum including classic and mild CCD, as well as an isolated dental phenotype characterized by delayed eruption of permanent teeth. 10545612

1999
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999
dbSNP: rs752933596
rs752933596
RUNX2
0.700 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999
dbSNP: rs752933596
rs752933596
RUNX2
0.700 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. 10689183

2000
dbSNP: rs104893990
rs104893990
RUNX2
0.810 GeneticVariation UNIPROT PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. 10689183

2000
dbSNP: rs104893990
rs104893990
RUNX2
0.810 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. 10689183

2000
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000