Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893991
rs104893991
A 0.820 CausalMutation CLINVAR

dbSNP: rs104893990
rs104893990
A 0.810 CausalMutation CLINVAR

dbSNP: rs104893989
rs104893989
G 0.800 CausalMutation CLINVAR

dbSNP: rs104893992
rs104893992
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893993
rs104893993
G 0.800 CausalMutation CLINVAR

dbSNP: rs104893995
rs104893995
C 0.800 CausalMutation CLINVAR

dbSNP: rs104893988
rs104893988
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893994
rs104893994
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057521068
rs1057521068
0.700 GeneticVariation UNIPROT

dbSNP: rs201647225
rs201647225
0.700 GeneticVariation UNIPROT

dbSNP: rs397515537
rs397515537
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515538
rs397515538
GC 0.700 CausalMutation CLINVAR

dbSNP: rs730880313
rs730880313
ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG 0.700 CausalMutation CLINVAR

dbSNP: rs730880315
rs730880315
TC 0.700 CausalMutation CLINVAR

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997

dbSNP: rs104893990
rs104893990
0.810 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997

dbSNP: rs104893990
rs104893990
0.810 GeneticVariation BEFREE Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD. 9207800

1997

dbSNP: rs104893990
rs104893990
0.810 GeneticVariation UNIPROT Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD. 9207800

1997

dbSNP: rs104893989
rs104893989
0.800 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997

dbSNP: rs104893989
rs104893989
0.800 GeneticVariation UNIPROT Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD. 9207800

1997

dbSNP: rs104893992
rs104893992
0.800 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997

dbSNP: rs104893992
rs104893992
0.800 GeneticVariation UNIPROT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997

dbSNP: rs104893993
rs104893993
0.800 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997

dbSNP: rs104893993
rs104893993
0.800 GeneticVariation UNIPROT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997