Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893991
rs104893991
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		A 0.820 CausalMutation CLINVAR

dbSNP: rs104893990
rs104893990
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		A 0.810 CausalMutation CLINVAR

dbSNP: rs104893995
rs104893995
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		C 0.800 CausalMutation CLINVAR

dbSNP: rs104893993
rs104893993
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104893989
rs104893989
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		G 0.800 CausalMutation CLINVAR

dbSNP: rs730880315
rs730880315
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		TC 0.700 CausalMutation CLINVAR

dbSNP: rs730880313
rs730880313
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG 0.700 CausalMutation CLINVAR

dbSNP: rs397515538
rs397515538
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs397515537
rs397515537
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs201647225
rs201647225
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 GeneticVariation UNIPROT

dbSNP: rs1057521068
rs1057521068
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 GeneticVariation UNIPROT

dbSNP: rs104893994
rs104893994
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs104893988
rs104893988
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104893991
rs104893991
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.820 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: rs104893990
rs104893990
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.810 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		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: rs752933596
rs752933596
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.700 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: rs759100705
rs759100705
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 GeneticVariation BEFREE A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene. 23220435

2012
dbSNP: rs104893991
rs104893991
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000
dbSNP: rs104893990
rs104893990
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.810 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000
dbSNP: rs104893995
rs104893995
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000