Gene: RUNX2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515537
rs397515537
RUNX2
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515538
rs397515538
RUNX2
GC 0.700 CausalMutation CLINVAR

dbSNP: rs730880313
rs730880313
RUNX2
ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG 0.700 CausalMutation CLINVAR

dbSNP: rs730880315
rs730880315
RUNX2
TC 0.700 CausalMutation CLINVAR

dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. 24984680

2014
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. 24984680

2014
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. 24984680

2014
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. 24984680

2014
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. 20648631

2010
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 20082269

2010
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT RUNX2 mutations in cleidocranial dysplasia patients. 19744171

2010
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 20082269

2010
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT RUNX2 mutations in cleidocranial dysplasia patients. 19744171

2010